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dbVar

Database of genomic structural variation

nsv5904567

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:56

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: 167 SVs from 33 studies. See in: genome view

Submitted genomic123,134,911-123,134,966

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5904567	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	123,134,911	123,134,966
nsv5904567	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	124,056,066	124,056,121

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17418149	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17418149	Submitted genomic		NC_000004.12:g.123 134911_123134966de l	GRCh38 (hg38)		NC_000004.12	Chr4	123,134,911	123,134,966
nssv17418149	Remapped	Perfect	NC_000004.11:g.124 056066_124056121de l	GRCh37.p13	First Pass	NC_000004.11	Chr4	124,056,066	124,056,121

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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