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

dbVar

Database of genomic structural variation

nsv3207075

Organism: Homo sapiens

Study:nstd152 (Chaisson et al. 2019)
Variant Type:copy number variation
Method Type:Optical mapping, Sequencing
Submitted on:GRCh38 (hg38)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:106,642

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: 503 SVs from 37 studies. See in: genome view

Submitted genomic99,625,549-99,732,190

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3207075	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	99,625,549	99,732,190
nsv3207075	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	98,880,547	98,987,188

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14387003	deletion	SAMN00001696	Optical mapping, Sequencing	Optical mapping, Sequence alignment, de novo and local sequence assembly	45,591

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14387003	Submitted genomic		NC_000023.11:g.996 25549_99732190del	GRCh38 (hg38)		NC_000023.11	ChrX	99,625,549	99,732,190
nssv14387003	Remapped	Perfect	NC_000023.10:g.988 80547_98987188del	GRCh37.p13	First Pass	NC_000023.10	ChrX	98,880,547	98,987,188

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.

You are here: NCBI