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dbVar

Database of genomic structural variation

nsv5894601

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:52

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: 146 SVs from 25 studies. See in: genome view

Submitted genomic126,785,946-126,785,997

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5894601	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	126,785,946	126,785,997
nsv5894601	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	126,121,638	126,121,689

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17412479	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17412479	Submitted genomic		NC_000005.10:g.126 785946_126785997de l	GRCh38 (hg38)		NC_000005.10	Chr5	126,785,946	126,785,997
nssv17412479	Remapped	Perfect	NC_000005.9:g.1261 21638_126121689del	GRCh37.p13	First Pass	NC_000005.9	Chr5	126,121,638	126,121,689

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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