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dbVar

Database of genomic structural variation

nsv5867486

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:5,800

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: 108 SVs from 34 studies. See in: genome view

Submitted genomic50,384,249-50,390,048

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5867486	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	50,384,249	50,390,048
nsv5867486	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	50,778,032	50,783,831

Variant Call Information

Variant Call ID	Type	Method	Analysis	Copy number
nssv17450343	copy number variation	Sequencing	Sequence alignment	2
nssv17468811	copy number variation	Sequencing	Sequence alignment	0

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17450343	Submitted genomic		GRCh38 (hg38)		NC_000012.12	Chr12	50,384,249	50,390,048
nssv17468811	Submitted genomic		GRCh38 (hg38)		NC_000012.12	Chr12	50,384,249	50,390,048
nssv17450343	Remapped	Perfect	GRCh37.p13	First Pass	NC_000012.11	Chr12	50,778,032	50,783,831
nssv17468811	Remapped	Perfect	GRCh37.p13	First Pass	NC_000012.11	Chr12	50,778,032	50,783,831

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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