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dbVar

Database of genomic structural variation

nsv3168271

Organism: Homo sapiens

Study:nstd158 (Cleal et al. 2019)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:39,336

Publication(s):Cleal 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: 309 SVs from 54 studies. See in: genome view

Remapped(Score: Perfect):99,405,835-99,445,512

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3168271	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	99,406,006 (-171, +171)	99,445,341 (-171, +171)
nsv3168271	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	99,799,784 (-171, +171)	99,839,119 (-171, +171)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14239063	deletion	DB56	Sequencing	Paired-end mapping	34

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14239063	Remapped	Perfect	NC_000012.12:g.(99 405835_99406177)_( 99445170_99445512) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	99,406,006 (-171, +171)	99,445,341 (-171, +171)
nssv14239063	Submitted genomic		NC_000012.11:g.(99 799613_99799955)_( 99838948_99839290) del	GRCh37 (hg19)		NC_000012.11	Chr12	99,799,784 (-171, +171)	99,839,119 (-171, +171)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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