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dbVar

Database of genomic structural variation

nsv5864495

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:2,139

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: 149 SVs from 30 studies. See in: genome view

Submitted genomic123,593,899-123,596,037

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5864495	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	123,593,899	123,596,037
nsv5864495	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	124,078,446	124,080,584

Variant Call Information

Variant Call ID	Type	Method	Analysis	Copy number
nssv17450265	copy number variation	Sequencing	Sequence alignment	0
nssv17462213	copy number variation	Sequencing	Sequence alignment	2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17450265	Submitted genomic		GRCh38 (hg38)		NC_000012.12	Chr12	123,593,899	123,596,037
nssv17462213	Submitted genomic		GRCh38 (hg38)		NC_000012.12	Chr12	123,593,899	123,596,037
nssv17450265	Remapped	Perfect	GRCh37.p13	First Pass	NC_000012.11	Chr12	124,078,446	124,080,584
nssv17462213	Remapped	Perfect	GRCh37.p13	First Pass	NC_000012.11	Chr12	124,078,446	124,080,584

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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