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dbVar

Database of genomic structural variation

nsv3547314

Organism: Homo sapiens

Study:nstd152 (Chaisson et al. 2019)
Variant Type:mobile element deletion
Method Type:Sequencing
Submitted on:GRCh38 (hg38)

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:6,063

Description:Absence of a L1HS mobile element insertion that is present in the reference
Publication(s):Chaisson 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: 150 SVs from 56 studies. See in: genome view

Submitted genomic24,811,644-24,817,723

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3547314	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	24,811,659 (-15, +0)	24,817,721 (-0, +2)
nsv3547314	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	24,811,887 (-15, +0)	24,817,949 (-0, +2)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv14326783	line1 deletion	HG00512	Sequencing	Sequence alignment	Heterozygous	13,827
nssv14326784	line1 deletion	SAMN00006466	Sequencing	Sequence alignment	Heterozygous	14,137
nssv14326785	line1 deletion	HG00514	Sequencing	Sequence alignment	Heterozygous	39,861
nssv14326786	line1 deletion	SAMN00006579	Sequencing	Sequence alignment	Heterozygous	13,953
nssv14326787	line1 deletion	SAMN00006580	Sequencing	Sequence alignment	Heterozygous	14,212
nssv14326788	line1 deletion	SAMN00006581	Sequencing	Sequence alignment	Heterozygous	41,185

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14326783	Submitted genomic		NC_000006.12:g.(24 811644_24811659)_( 24817721_24817723) del	GRCh38 (hg38)		NC_000006.12	Chr6	24,811,659 (-15, +0)	24,817,721 (-0, +2)
nssv14326784	Submitted genomic		NC_000006.12:g.(24 811644_24811659)_( 24817721_24817723) del	GRCh38 (hg38)		NC_000006.12	Chr6	24,811,659 (-15, +0)	24,817,721 (-0, +2)
nssv14326785	Submitted genomic		NC_000006.12:g.(24 811644_24811659)_( 24817721_24817723) del	GRCh38 (hg38)		NC_000006.12	Chr6	24,811,659 (-15, +0)	24,817,721 (-0, +2)
nssv14326786	Submitted genomic		NC_000006.12:g.(24 811644_24811659)_( 24817721_24817723) del	GRCh38 (hg38)		NC_000006.12	Chr6	24,811,659 (-15, +0)	24,817,721 (-0, +2)
nssv14326787	Submitted genomic		NC_000006.12:g.(24 811644_24811659)_( 24817721_24817723) del	GRCh38 (hg38)		NC_000006.12	Chr6	24,811,659 (-15, +0)	24,817,721 (-0, +2)
nssv14326788	Submitted genomic		NC_000006.12:g.(24 811644_24811659)_( 24817721_24817723) del	GRCh38 (hg38)		NC_000006.12	Chr6	24,811,659 (-15, +0)	24,817,721 (-0, +2)
nssv14326783	Remapped	Perfect	NC_000006.11:g.(24 811872_24811887)_( 24817949_24817951) del	GRCh37.p13	First Pass	NC_000006.11	Chr6	24,811,887 (-15, +0)	24,817,949 (-0, +2)
nssv14326784	Remapped	Perfect	NC_000006.11:g.(24 811872_24811887)_( 24817949_24817951) del	GRCh37.p13	First Pass	NC_000006.11	Chr6	24,811,887 (-15, +0)	24,817,949 (-0, +2)
nssv14326785	Remapped	Perfect	NC_000006.11:g.(24 811872_24811887)_( 24817949_24817951) del	GRCh37.p13	First Pass	NC_000006.11	Chr6	24,811,887 (-15, +0)	24,817,949 (-0, +2)
nssv14326786	Remapped	Perfect	NC_000006.11:g.(24 811872_24811887)_( 24817949_24817951) del	GRCh37.p13	First Pass	NC_000006.11	Chr6	24,811,887 (-15, +0)	24,817,949 (-0, +2)
nssv14326787	Remapped	Perfect	NC_000006.11:g.(24 811872_24811887)_( 24817949_24817951) del	GRCh37.p13	First Pass	NC_000006.11	Chr6	24,811,887 (-15, +0)	24,817,949 (-0, +2)
nssv14326788	Remapped	Perfect	NC_000006.11:g.(24 811872_24811887)_( 24817949_24817951) del	GRCh37.p13	First Pass	NC_000006.11	Chr6	24,811,887 (-15, +0)	24,817,949 (-0, +2)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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