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dbVar

Database of genomic structural variation

nsv3189831

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:20,136

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: 540 SVs from 66 studies. See in: genome view

Submitted genomic12,685,829-12,705,964

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3189831	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	12,685,829	12,705,964
nsv3189831	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	12,685,941	12,706,076

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14398600	complex substitution	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	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14398600	Submitted genomic		GRCh38 (hg38)		NC_000005.10	Chr5	12,685,829	12,705,964
nssv14398600	Remapped	Perfect	GRCh37.p13	First Pass	NC_000005.9	Chr5	12,685,941	12,706,076

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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