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dbVar

Database of genomic structural variation

nsv4746342

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:57

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: 442 SVs from 63 studies. See in: genome view

Remapped(Score: Perfect):90,298,217-90,298,273

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4746342	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	90,298,217	90,298,273
nsv4746342	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187524.1	Chr2\|NT_18 7524.1	104,250	104,306
nsv4746342	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	90,475,764	90,475,820

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16282149	deletion	Sequencing	Split read mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16282149	Remapped	Perfect	NT_187524.1:g.1042 50_104306del	GRCh38.p12	Second Pass	NT_187524.1	Chr2\|NT_18 7524.1	104,250	104,306
nssv16282149	Remapped	Perfect	NC_000002.12:g.902 98217_90298273del	GRCh38.p12	First Pass	NC_000002.12	Chr2	90,298,217	90,298,273
nssv16282149	Submitted genomic		NC_000002.11:g.904 75764_90475820del	GRCh37 (hg19)		NC_000002.11	Chr2	90,475,764	90,475,820

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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