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dbVar

Database of genomic structural variation

nsv4748483

Organism: Homo sapiens

Study:nstd199 (Quan et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:2,210

Publication(s):Quan et al. 2021

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: 665 SVs from 69 studies. See in: genome view

Remapped(Score: Perfect):89,840,730-89,841,869

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4748483	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	89,840,730	89,841,869
nsv4748483	Remapped	Pass	GRCh38.p12	PATCHES	Second Pass	NW_012132915.1	Chr2\|NW_01 2132915.1	449,563	451,772
nsv4748483	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	89,879,540	89,880,679

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16296431	duplication	Sequencing	Split read mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16296431	Remapped	Pass	NW_012132915.1:g.4 49563_451772dup	GRCh38.p12	Second Pass	NW_012132915.1	Chr2\|NW_01 2132915.1	449,563	451,772
nssv16296431	Remapped	Perfect	NC_000002.12:g.898 40730_89841869dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	89,840,730	89,841,869
nssv16296431	Submitted genomic		NC_000002.11:g.898 79540_89880679dup	GRCh37 (hg19)		NC_000002.11	Chr2	89,879,540	89,880,679

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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