Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv3404093

Organism: Homo sapiens

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

Variant Calls:8
Validation:Not tested
Clinical Assertions: No
Region Size:6,250

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: 552 SVs from 51 studies. See in: genome view

Submitted genomic11,935,067-11,941,316

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3404093	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	11,935,067	11,941,316
nsv3404093	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	11,953,186	11,959,435

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14794435	line1 deletion	SAMN04251426	Sequencing	de novo and local sequence assembly	22,074
nssv14795717	line1 deletion	SAMN04229548	Sequencing	de novo and local sequence assembly	23,009
nssv14797298	line1 deletion	SAMN05603847	Sequencing	de novo and local sequence assembly	26,021
nssv14798122	line1 deletion	SAMN03838746	Sequencing	de novo and local sequence assembly	26,336
nssv14800979	line1 deletion	SAMN04229552	Sequencing	de novo and local sequence assembly	24,632
nssv14804166	line1 deletion	SAMN09643900	Sequencing	de novo and local sequence assembly	26,631
nssv14811195	line1 deletion	SAMN05603729	Sequencing	de novo and local sequence assembly	24,108
nssv14811668	line1 deletion	SAMN09651199	Sequencing	de novo and local sequence assembly	27,381

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14794435	Submitted genomic		NC_000023.11:g.119 35067_11941316del	GRCh38 (hg38)		NC_000023.11	ChrX	11,935,067	11,941,316
nssv14795717	Submitted genomic		NC_000023.11:g.119 35067_11941316del	GRCh38 (hg38)		NC_000023.11	ChrX	11,935,067	11,941,316
nssv14797298	Submitted genomic		NC_000023.11:g.119 35067_11941316del	GRCh38 (hg38)		NC_000023.11	ChrX	11,935,067	11,941,316
nssv14798122	Submitted genomic		NC_000023.11:g.119 35067_11941316del	GRCh38 (hg38)		NC_000023.11	ChrX	11,935,067	11,941,316
nssv14800979	Submitted genomic		NC_000023.11:g.119 35067_11941316del	GRCh38 (hg38)		NC_000023.11	ChrX	11,935,067	11,941,316
nssv14804166	Submitted genomic		NC_000023.11:g.119 35067_11941316del	GRCh38 (hg38)		NC_000023.11	ChrX	11,935,067	11,941,316
nssv14811195	Submitted genomic		NC_000023.11:g.119 35067_11941316del	GRCh38 (hg38)		NC_000023.11	ChrX	11,935,067	11,941,316
nssv14811668	Submitted genomic		NC_000023.11:g.119 35067_11941316del	GRCh38 (hg38)		NC_000023.11	ChrX	11,935,067	11,941,316
nssv14794435	Remapped	Perfect	NC_000023.10:g.119 53186_11959435delN C_000023.10:g.1195 3186_11959435del	GRCh37.p13	First Pass	NC_000023.10	ChrX	11,953,186	11,959,435
nssv14795717	Remapped	Perfect	NC_000023.10:g.119 53186_11959435delN C_000023.10:g.1195 3186_11959435del	GRCh37.p13	First Pass	NC_000023.10	ChrX	11,953,186	11,959,435
nssv14797298	Remapped	Perfect	NC_000023.10:g.119 53186_11959435delN C_000023.10:g.1195 3186_11959435del	GRCh37.p13	First Pass	NC_000023.10	ChrX	11,953,186	11,959,435
nssv14798122	Remapped	Perfect	NC_000023.10:g.119 53186_11959435delN C_000023.10:g.1195 3186_11959435del	GRCh37.p13	First Pass	NC_000023.10	ChrX	11,953,186	11,959,435
nssv14800979	Remapped	Perfect	NC_000023.10:g.119 53186_11959435delN C_000023.10:g.1195 3186_11959435del	GRCh37.p13	First Pass	NC_000023.10	ChrX	11,953,186	11,959,435
nssv14804166	Remapped	Perfect	NC_000023.10:g.119 53186_11959435delN C_000023.10:g.1195 3186_11959435del	GRCh37.p13	First Pass	NC_000023.10	ChrX	11,953,186	11,959,435
nssv14811195	Remapped	Perfect	NC_000023.10:g.119 53186_11959435delN C_000023.10:g.1195 3186_11959435del	GRCh37.p13	First Pass	NC_000023.10	ChrX	11,953,186	11,959,435
nssv14811668	Remapped	Perfect	NC_000023.10:g.119 53186_11959435delN C_000023.10:g.1195 3186_11959435del	GRCh37.p13	First Pass	NC_000023.10	ChrX	11,953,186	11,959,435

Showing 16 of 24

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

You are here: NCBI