nsv3350862

Organism: Homo sapiens

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

Variant Calls:10
Validation:Not tested
Clinical Assertions: No
Region Size:876

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

Links to Other Resources

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: 448 SVs from 56 studies. See in: genome view

Submitted genomic17,327,045-17,327,920

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3350862	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	17,327,045	17,327,920
nsv3350862	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	17,230,359	17,231,234

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14553771	alu deletion	SAMN03838746	Sequencing	de novo and local sequence assembly	26,336
nssv14556449	alu deletion	SAMN04229548	Sequencing	de novo and local sequence assembly	23,009
nssv14557794	alu deletion	SAMN05181962	Sequencing	de novo and local sequence assembly	23,563
nssv14563090	alu deletion	SAMN04229552	Sequencing	de novo and local sequence assembly	24,632
nssv14563956	alu deletion	SAMN09651199	Sequencing	de novo and local sequence assembly	27,381
nssv14566376	alu deletion	SAMN02744161	Sequencing	de novo and local sequence assembly	20,941
nssv14567476	alu deletion	SAMN04251426	Sequencing	de novo and local sequence assembly	22,074
nssv14569701	alu deletion	SAMN05603729	Sequencing	de novo and local sequence assembly	24,108
nssv14570006	alu deletion	SAMN03255769	Sequencing	de novo and local sequence assembly	21,134
nssv14570895	alu 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
nssv14553771	Submitted genomic		NC_000017.11:g.173 27045_17327920del	GRCh38 (hg38)		NC_000017.11	Chr17	17,327,045	17,327,920
nssv14556449	Submitted genomic		NC_000017.11:g.173 27045_17327920del	GRCh38 (hg38)		NC_000017.11	Chr17	17,327,045	17,327,920
nssv14557794	Submitted genomic		NC_000017.11:g.173 27045_17327920del	GRCh38 (hg38)		NC_000017.11	Chr17	17,327,045	17,327,920
nssv14563090	Submitted genomic		NC_000017.11:g.173 27045_17327920del	GRCh38 (hg38)		NC_000017.11	Chr17	17,327,045	17,327,920
nssv14563956	Submitted genomic		NC_000017.11:g.173 27045_17327920del	GRCh38 (hg38)		NC_000017.11	Chr17	17,327,045	17,327,920
nssv14566376	Submitted genomic		NC_000017.11:g.173 27045_17327920del	GRCh38 (hg38)		NC_000017.11	Chr17	17,327,045	17,327,920
nssv14567476	Submitted genomic		NC_000017.11:g.173 27045_17327920del	GRCh38 (hg38)		NC_000017.11	Chr17	17,327,045	17,327,920
nssv14569701	Submitted genomic		NC_000017.11:g.173 27045_17327920del	GRCh38 (hg38)		NC_000017.11	Chr17	17,327,045	17,327,920
nssv14570006	Submitted genomic		NC_000017.11:g.173 27045_17327920del	GRCh38 (hg38)		NC_000017.11	Chr17	17,327,045	17,327,920
nssv14570895	Submitted genomic		NC_000017.11:g.173 27045_17327920del	GRCh38 (hg38)		NC_000017.11	Chr17	17,327,045	17,327,920
nssv14553771	Remapped	Perfect	NC_000017.10:g.172 30359_17231234delN C_000017.10:g.1723 0359_17231234del	GRCh37.p13	First Pass	NC_000017.10	Chr17	17,230,359	17,231,234
nssv14556449	Remapped	Perfect	NC_000017.10:g.172 30359_17231234delN C_000017.10:g.1723 0359_17231234del	GRCh37.p13	First Pass	NC_000017.10	Chr17	17,230,359	17,231,234
nssv14557794	Remapped	Perfect	NC_000017.10:g.172 30359_17231234delN C_000017.10:g.1723 0359_17231234del	GRCh37.p13	First Pass	NC_000017.10	Chr17	17,230,359	17,231,234
nssv14563090	Remapped	Perfect	NC_000017.10:g.172 30359_17231234delN C_000017.10:g.1723 0359_17231234del	GRCh37.p13	First Pass	NC_000017.10	Chr17	17,230,359	17,231,234
nssv14563956	Remapped	Perfect	NC_000017.10:g.172 30359_17231234delN C_000017.10:g.1723 0359_17231234del	GRCh37.p13	First Pass	NC_000017.10	Chr17	17,230,359	17,231,234
nssv14566376	Remapped	Perfect	NC_000017.10:g.172 30359_17231234delN C_000017.10:g.1723 0359_17231234del	GRCh37.p13	First Pass	NC_000017.10	Chr17	17,230,359	17,231,234
nssv14567476	Remapped	Perfect	NC_000017.10:g.172 30359_17231234delN C_000017.10:g.1723 0359_17231234del	GRCh37.p13	First Pass	NC_000017.10	Chr17	17,230,359	17,231,234
nssv14569701	Remapped	Perfect	NC_000017.10:g.172 30359_17231234delN C_000017.10:g.1723 0359_17231234del	GRCh37.p13	First Pass	NC_000017.10	Chr17	17,230,359	17,231,234
nssv14570006	Remapped	Perfect	NC_000017.10:g.172 30359_17231234delN C_000017.10:g.1723 0359_17231234del	GRCh37.p13	First Pass	NC_000017.10	Chr17	17,230,359	17,231,234
nssv14570895	Remapped	Perfect	NC_000017.10:g.172 30359_17231234delN C_000017.10:g.1723 0359_17231234del	GRCh37.p13	First Pass	NC_000017.10	Chr17	17,230,359	17,231,234

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dbVar

Database of genomic structural variation

nsv3350862

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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