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dbVar

Database of genomic structural variation

nsv5877762

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:57

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

Submitted genomic28,632,861-28,632,917

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5877762	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	28,632,861	28,632,917
nsv5877762	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	28,855,728	28,855,784

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17393389	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17393389	Submitted genomic		NC_000002.12:g.286 32861_28632917dup	GRCh38 (hg38)		NC_000002.12	Chr2	28,632,861	28,632,917
nssv17393389	Remapped	Perfect	NC_000002.11:g.288 55728_28855784dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	28,855,728	28,855,784

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv17393389	1	2	2

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