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dbVar

Database of genomic structural variation

nsv3191625

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:60,228

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: 674 SVs from 76 studies. See in: genome view

Submitted genomic41,140,233-41,200,460

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3191625	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	41,140,233	41,200,460
nsv3191625	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	41,609,436	41,669,663

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14430865	complex substitution	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	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14430865	Submitted genomic		GRCh38 (hg38)		NC_000014.9	Chr14	41,140,233	41,200,460
nssv14430865	Remapped	Perfect	GRCh37.p13	First Pass	NC_000014.8	Chr14	41,609,436	41,669,663

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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