A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704248



Internal ID15094214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:107389990..107392885hg38UCSC Ensembl
Innerchr5:106725691..106728586hg19UCSC Ensembl
Innerchr5:106753590..106756485hg18UCSC Ensembl
Innerchr5:106753590..106756485hg17UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg382896
hg192896
hg182896
hg172896
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527761
Supporting Variants
Samples
Known GenesEFNA5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704248
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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