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dbVar

Database of genomic structural variation

nsv3248139

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:9,683

Description:Absence of a L1 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: 351 SVs from 59 studies. See in: genome view

Submitted genomic72,154,148-72,163,830

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3248139	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	72,154,148	72,163,830
nsv3248139	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	72,863,851	72,873,533

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14436304	line1 deletion	HG00514	Optical mapping, Sequencing	Optical mapping, Sequence alignment, de novo and local sequence assembly	39,861

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14436304	Submitted genomic		NC_000006.12:g.721 54148_72163830del9 682	GRCh38 (hg38)		NC_000006.12	Chr6	72,154,148	72,163,830
nssv14436304	Remapped	Perfect	NC_000006.11:g.728 63851_72873533del9 682	GRCh37.p13	First Pass	NC_000006.11	Chr6	72,863,851	72,873,533

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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