nsv3384054

Organism: Homo sapiens

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

Variant Calls:13
Validation:Not tested
Clinical Assertions: No
Region Size:6,109

Description:Absence of a L1 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

Genome View

Select assembly:

Overlapping variant regions from other studies: 154 SVs from 54 studies. See in: genome view

Submitted genomic58,384,167-58,390,275

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3384054	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	58,384,167	58,390,275
nsv3384054	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	57,679,994	57,686,102

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14772649	line1 deletion	SAMN05603847	Sequencing	de novo and local sequence assembly	26,021
nssv14773774	line1 deletion	SAMN04229548	Sequencing	de novo and local sequence assembly	23,009
nssv14774903	line1 deletion	SAMN04229552	Sequencing	de novo and local sequence assembly	24,632
nssv14777689	line1 deletion	SAMN02744161	Sequencing	de novo and local sequence assembly	20,941
nssv14778267	line1 deletion	SAMN05603745	Sequencing	de novo and local sequence assembly	27,447
nssv14781321	line1 deletion	SAMN05603729	Sequencing	de novo and local sequence assembly	24,108
nssv14782067	line1 deletion	SAMN09643900	Sequencing	de novo and local sequence assembly	26,631
nssv14783444	line1 deletion	SAMN09651199	Sequencing	de novo and local sequence assembly	27,381
nssv14786502	line1 deletion	SAMN06885952	Sequencing	de novo and local sequence assembly	28,070
nssv14787282	line1 deletion	SAMN03838746	Sequencing	de novo and local sequence assembly	26,336
nssv14787597	line1 deletion	SAMN09690649	Sequencing	de novo and local sequence assembly	21,495
nssv14789233	line1 deletion	SAMN04251426	Sequencing	de novo and local sequence assembly	22,074
nssv14791989	line1 deletion	SAMN05181962	Sequencing	de novo and local sequence assembly	23,563

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14772649	Submitted genomic		NC_000005.10:g.583 84167_58390275del	GRCh38 (hg38)		NC_000005.10	Chr5	58,384,167	58,390,275
nssv14773774	Submitted genomic		NC_000005.10:g.583 84167_58390275del	GRCh38 (hg38)		NC_000005.10	Chr5	58,384,167	58,390,275
nssv14774903	Submitted genomic		NC_000005.10:g.583 84167_58390275del	GRCh38 (hg38)		NC_000005.10	Chr5	58,384,167	58,390,275
nssv14777689	Submitted genomic		NC_000005.10:g.583 84167_58390275del	GRCh38 (hg38)		NC_000005.10	Chr5	58,384,167	58,390,275
nssv14778267	Submitted genomic		NC_000005.10:g.583 84167_58390275del	GRCh38 (hg38)		NC_000005.10	Chr5	58,384,167	58,390,275
nssv14781321	Submitted genomic		NC_000005.10:g.583 84167_58390275del	GRCh38 (hg38)		NC_000005.10	Chr5	58,384,167	58,390,275
nssv14782067	Submitted genomic		NC_000005.10:g.583 84167_58390275del	GRCh38 (hg38)		NC_000005.10	Chr5	58,384,167	58,390,275
nssv14783444	Submitted genomic		NC_000005.10:g.583 84167_58390275del	GRCh38 (hg38)		NC_000005.10	Chr5	58,384,167	58,390,275
nssv14786502	Submitted genomic		NC_000005.10:g.583 84167_58390275del	GRCh38 (hg38)		NC_000005.10	Chr5	58,384,167	58,390,275
nssv14787282	Submitted genomic		NC_000005.10:g.583 84167_58390275del	GRCh38 (hg38)		NC_000005.10	Chr5	58,384,167	58,390,275
nssv14787597	Submitted genomic		NC_000005.10:g.583 84167_58390275del	GRCh38 (hg38)		NC_000005.10	Chr5	58,384,167	58,390,275
nssv14789233	Submitted genomic		NC_000005.10:g.583 84167_58390275del	GRCh38 (hg38)		NC_000005.10	Chr5	58,384,167	58,390,275
nssv14791989	Submitted genomic		NC_000005.10:g.583 84167_58390275del	GRCh38 (hg38)		NC_000005.10	Chr5	58,384,167	58,390,275
nssv14772649	Remapped	Perfect	NC_000005.9:g.5767 9994_57686102delNC _000005.9:g.576799 94_57686102del	GRCh37.p13	First Pass	NC_000005.9	Chr5	57,679,994	57,686,102
nssv14773774	Remapped	Perfect	NC_000005.9:g.5767 9994_57686102delNC _000005.9:g.576799 94_57686102del	GRCh37.p13	First Pass	NC_000005.9	Chr5	57,679,994	57,686,102
nssv14774903	Remapped	Perfect	NC_000005.9:g.5767 9994_57686102delNC _000005.9:g.576799 94_57686102del	GRCh37.p13	First Pass	NC_000005.9	Chr5	57,679,994	57,686,102
nssv14777689	Remapped	Perfect	NC_000005.9:g.5767 9994_57686102delNC _000005.9:g.576799 94_57686102del	GRCh37.p13	First Pass	NC_000005.9	Chr5	57,679,994	57,686,102
nssv14778267	Remapped	Perfect	NC_000005.9:g.5767 9994_57686102delNC _000005.9:g.576799 94_57686102del	GRCh37.p13	First Pass	NC_000005.9	Chr5	57,679,994	57,686,102
nssv14781321	Remapped	Perfect	NC_000005.9:g.5767 9994_57686102delNC _000005.9:g.576799 94_57686102del	GRCh37.p13	First Pass	NC_000005.9	Chr5	57,679,994	57,686,102
nssv14782067	Remapped	Perfect	NC_000005.9:g.5767 9994_57686102delNC _000005.9:g.576799 94_57686102del	GRCh37.p13	First Pass	NC_000005.9	Chr5	57,679,994	57,686,102
nssv14783444	Remapped	Perfect	NC_000005.9:g.5767 9994_57686102delNC _000005.9:g.576799 94_57686102del	GRCh37.p13	First Pass	NC_000005.9	Chr5	57,679,994	57,686,102
nssv14786502	Remapped	Perfect	NC_000005.9:g.5767 9994_57686102delNC _000005.9:g.576799 94_57686102del	GRCh37.p13	First Pass	NC_000005.9	Chr5	57,679,994	57,686,102
nssv14787282	Remapped	Perfect	NC_000005.9:g.5767 9994_57686102delNC _000005.9:g.576799 94_57686102del	GRCh37.p13	First Pass	NC_000005.9	Chr5	57,679,994	57,686,102
nssv14787597	Remapped	Perfect	NC_000005.9:g.5767 9994_57686102delNC _000005.9:g.576799 94_57686102del	GRCh37.p13	First Pass	NC_000005.9	Chr5	57,679,994	57,686,102
nssv14789233	Remapped	Perfect	NC_000005.9:g.5767 9994_57686102delNC _000005.9:g.576799 94_57686102del	GRCh37.p13	First Pass	NC_000005.9	Chr5	57,679,994	57,686,102
nssv14791989	Remapped	Perfect	NC_000005.9:g.5767 9994_57686102delNC _000005.9:g.576799 94_57686102del	GRCh37.p13	First Pass	NC_000005.9	Chr5	57,679,994	57,686,102

Showing 26 of 39

dbVar

Database of genomic structural variation

nsv3384054

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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