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dbVar

Database of genomic structural variation

nsv3167908

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:80,316

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: 307 SVs from 45 studies. See in: genome view

Remapped(Score: Perfect):56,607,099-56,687,788

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3167908	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	56,607,286 (-187, +187)	56,687,601 (-187, +187)
nsv3167908	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	57,072,959 (-187, +187)	57,153,274 (-187, +187)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14239473	duplication	DB86	Sequencing	Paired-end mapping	12

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14239473	Remapped	Perfect	NC_000001.11:g.(56 607099_56607473)_( 56687414_56687788) dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	56,607,286 (-187, +187)	56,687,601 (-187, +187)
nssv14239473	Submitted genomic		NC_000001.10:g.(57 072772_57073146)_( 57153087_57153461) dup	GRCh37 (hg19)		NC_000001.10	Chr1	57,072,959 (-187, +187)	57,153,274 (-187, +187)

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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