nsv3370234

Organism: Homo sapiens

Study:nstd162 (Audano et al. 2019)
Variant Type:mobile element deletion
Method Type:Sequencing
Submitted on:GRCh38 (hg38)

Variant Calls:14
Validation:Not tested
Clinical Assertions: No
Region Size:3,297

Description:Absence of a SVA insertion that is present in the reference
Publication(s):Audano et al. 2019

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Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

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Select assembly:

Overlapping variant regions from other studies: 207 SVs from 55 studies. See in: genome view

Submitted genomic34,228,124-34,231,420

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3370234	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000020.11	Chr20	34,228,124	34,231,420
nsv3370234	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	32,815,930	32,819,226

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14812103	sva deletion	SAMN03255769	Sequencing	de novo and local sequence assembly	21,134
nssv14812259	sva deletion	SAMN02744161	Sequencing	de novo and local sequence assembly	20,941
nssv14812436	sva deletion	SAMN09643900	Sequencing	de novo and local sequence assembly	26,631
nssv14812636	sva deletion	SAMN04229552	Sequencing	de novo and local sequence assembly	24,632
nssv14812825	sva deletion	SAMN04229548	Sequencing	de novo and local sequence assembly	23,009
nssv14813044	sva deletion	SAMN05603729	Sequencing	de novo and local sequence assembly	24,108
nssv14813242	sva deletion	SAMN05603847	Sequencing	de novo and local sequence assembly	26,021
nssv14813449	sva deletion	SAMN09651199	Sequencing	de novo and local sequence assembly	27,381
nssv14813671	sva deletion	SAMN05603745	Sequencing	de novo and local sequence assembly	27,447
nssv14813893	sva deletion	SAMN09690649	Sequencing	de novo and local sequence assembly	21,495
nssv14814069	sva deletion	SAMN04251426	Sequencing	de novo and local sequence assembly	22,074
nssv14814245	sva deletion	SAMN05181962	Sequencing	de novo and local sequence assembly	23,563
nssv14814476	sva deletion	SAMN03838746	Sequencing	de novo and local sequence assembly	26,336
nssv14814731	sva deletion	SAMN06885952	Sequencing	de novo and local sequence assembly	28,070

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14812103	Submitted genomic		NC_000020.11:g.342 28124_34231420del	GRCh38 (hg38)		NC_000020.11	Chr20	34,228,124	34,231,420
nssv14812259	Submitted genomic		NC_000020.11:g.342 28124_34231420del	GRCh38 (hg38)		NC_000020.11	Chr20	34,228,124	34,231,420
nssv14812436	Submitted genomic		NC_000020.11:g.342 28124_34231420del	GRCh38 (hg38)		NC_000020.11	Chr20	34,228,124	34,231,420
nssv14812636	Submitted genomic		NC_000020.11:g.342 28124_34231420del	GRCh38 (hg38)		NC_000020.11	Chr20	34,228,124	34,231,420
nssv14812825	Submitted genomic		NC_000020.11:g.342 28124_34231420del	GRCh38 (hg38)		NC_000020.11	Chr20	34,228,124	34,231,420
nssv14813044	Submitted genomic		NC_000020.11:g.342 28124_34231420del	GRCh38 (hg38)		NC_000020.11	Chr20	34,228,124	34,231,420
nssv14813242	Submitted genomic		NC_000020.11:g.342 28124_34231420del	GRCh38 (hg38)		NC_000020.11	Chr20	34,228,124	34,231,420
nssv14813449	Submitted genomic		NC_000020.11:g.342 28124_34231420del	GRCh38 (hg38)		NC_000020.11	Chr20	34,228,124	34,231,420
nssv14813671	Submitted genomic		NC_000020.11:g.342 28124_34231420del	GRCh38 (hg38)		NC_000020.11	Chr20	34,228,124	34,231,420
nssv14813893	Submitted genomic		NC_000020.11:g.342 28124_34231420del	GRCh38 (hg38)		NC_000020.11	Chr20	34,228,124	34,231,420
nssv14814069	Submitted genomic		NC_000020.11:g.342 28124_34231420del	GRCh38 (hg38)		NC_000020.11	Chr20	34,228,124	34,231,420
nssv14814245	Submitted genomic		NC_000020.11:g.342 28124_34231420del	GRCh38 (hg38)		NC_000020.11	Chr20	34,228,124	34,231,420
nssv14814476	Submitted genomic		NC_000020.11:g.342 28124_34231420del	GRCh38 (hg38)		NC_000020.11	Chr20	34,228,124	34,231,420
nssv14814731	Submitted genomic		NC_000020.11:g.342 28124_34231420del	GRCh38 (hg38)		NC_000020.11	Chr20	34,228,124	34,231,420
nssv14812103	Remapped	Perfect	NC_000020.10:g.328 15930_32819226delN C_000020.10:g.3281 5930_32819226del	GRCh37.p13	First Pass	NC_000020.10	Chr20	32,815,930	32,819,226
nssv14812259	Remapped	Perfect	NC_000020.10:g.328 15930_32819226delN C_000020.10:g.3281 5930_32819226del	GRCh37.p13	First Pass	NC_000020.10	Chr20	32,815,930	32,819,226
nssv14812436	Remapped	Perfect	NC_000020.10:g.328 15930_32819226delN C_000020.10:g.3281 5930_32819226del	GRCh37.p13	First Pass	NC_000020.10	Chr20	32,815,930	32,819,226
nssv14812636	Remapped	Perfect	NC_000020.10:g.328 15930_32819226delN C_000020.10:g.3281 5930_32819226del	GRCh37.p13	First Pass	NC_000020.10	Chr20	32,815,930	32,819,226
nssv14812825	Remapped	Perfect	NC_000020.10:g.328 15930_32819226delN C_000020.10:g.3281 5930_32819226del	GRCh37.p13	First Pass	NC_000020.10	Chr20	32,815,930	32,819,226
nssv14813044	Remapped	Perfect	NC_000020.10:g.328 15930_32819226delN C_000020.10:g.3281 5930_32819226del	GRCh37.p13	First Pass	NC_000020.10	Chr20	32,815,930	32,819,226
nssv14813242	Remapped	Perfect	NC_000020.10:g.328 15930_32819226delN C_000020.10:g.3281 5930_32819226del	GRCh37.p13	First Pass	NC_000020.10	Chr20	32,815,930	32,819,226
nssv14813449	Remapped	Perfect	NC_000020.10:g.328 15930_32819226delN C_000020.10:g.3281 5930_32819226del	GRCh37.p13	First Pass	NC_000020.10	Chr20	32,815,930	32,819,226
nssv14813671	Remapped	Perfect	NC_000020.10:g.328 15930_32819226delN C_000020.10:g.3281 5930_32819226del	GRCh37.p13	First Pass	NC_000020.10	Chr20	32,815,930	32,819,226
nssv14813893	Remapped	Perfect	NC_000020.10:g.328 15930_32819226delN C_000020.10:g.3281 5930_32819226del	GRCh37.p13	First Pass	NC_000020.10	Chr20	32,815,930	32,819,226
nssv14814069	Remapped	Perfect	NC_000020.10:g.328 15930_32819226delN C_000020.10:g.3281 5930_32819226del	GRCh37.p13	First Pass	NC_000020.10	Chr20	32,815,930	32,819,226
nssv14814245	Remapped	Perfect	NC_000020.10:g.328 15930_32819226delN C_000020.10:g.3281 5930_32819226del	GRCh37.p13	First Pass	NC_000020.10	Chr20	32,815,930	32,819,226
nssv14814476	Remapped	Perfect	NC_000020.10:g.328 15930_32819226delN C_000020.10:g.3281 5930_32819226del	GRCh37.p13	First Pass	NC_000020.10	Chr20	32,815,930	32,819,226
nssv14814731	Remapped	Perfect	NC_000020.10:g.328 15930_32819226delN C_000020.10:g.3281 5930_32819226del	GRCh37.p13	First Pass	NC_000020.10	Chr20	32,815,930	32,819,226

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dbVar

Database of genomic structural variation

nsv3370234

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Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant