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dbVar

Database of genomic structural variation

nsv4754987

Organism: Homo sapiens

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

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

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: 451 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):46,145,714-46,145,714

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4754987	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	46,145,714	46,145,714
nsv4754987	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187626.1	Chr21\|NT_1 87626.1	4,773	4,773
nsv4754987	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	47,565,628	47,565,628

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16278587	insertion	Sequencing	Split read mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16278587	Remapped	Perfect	NT_187626.1:g.4773 _4774ins256	GRCh38.p12	Second Pass	NT_187626.1	Chr21\|NT_1 87626.1	4,773	4,773
nssv16278587	Remapped	Perfect	NC_000021.9:g.4614 5714_46145715ins25 6	GRCh38.p12	First Pass	NC_000021.9	Chr21	46,145,714	46,145,714
nssv16278587	Submitted genomic		NC_000021.8:g.4756 5628_47565629ins25 6	GRCh37 (hg19)		NC_000021.8	Chr21	47,565,628	47,565,628

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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