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dbVar

Database of genomic structural variation

nsv5966711

Organism: Homo sapiens

Study:nstd209 (Almarri et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:383

Publication(s):Almarri et al. 2020

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: 332 SVs from 29 studies. See in: genome view

Submitted genomic44,682,494-44,682,876

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5966711	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000021.9	Chr21	44,682,494	44,682,876
nsv5966711	Remapped	Perfect	GRCh37.p13	Primary Assembly	Second Pass	NC_000021.8	Chr21	46,102,409	46,102,791
nsv5966711	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_004775435.1	Chr21\|NW_0 04775435.1	185,815	186,197

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17401662	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17401662	Submitted genomic		NC_000021.9:g.4468 2494_44682876del	GRCh38 (hg38)		NC_000021.9	Chr21	44,682,494	44,682,876
nssv17401662	Remapped	Perfect	NW_004775435.1:g.1 85815_186197del	GRCh37.p13	First Pass	NW_004775435.1	Chr21\|NW_0 04775435.1	185,815	186,197
nssv17401662	Remapped	Perfect	NC_000021.8:g.4610 2409_46102791del	GRCh37.p13	Second Pass	NC_000021.8	Chr21	46,102,409	46,102,791

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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