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dbVar

Database of genomic structural variation

nsv6290056

Organism: Homo sapiens

Study:nstd218 (Wijesiriwardhana et al. 2021)
Variant Type:copy number variation
Method Type:Oligo aCGH
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:16,998

Publication(s):Wijesiriwardhana 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: 269 SVs from 40 studies. See in: genome view

Remapped(Score: Perfect):45,941,807-45,958,804

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6290056	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	45,941,807	45,958,804
nsv6290056	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	47,361,721	47,378,718

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17955792	copy number gain	Oligo aCGH	Probe signal intensity

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17955792	Remapped	Perfect	NC_000021.9:g.(?_4 5941807)_(45958804 _?)dup	GRCh38.p12	First Pass	NC_000021.9	Chr21	45,941,807	45,958,804
nssv17955792	Submitted genomic		NC_000021.8:g.(?_4 7361721)_(47378718 _?)dup	GRCh37 (hg19)		NC_000021.8	Chr21	47,361,721	47,378,718

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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