A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv679504



Internal ID15416156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75333283..75456899hg38UCSC Ensembl
Innerchr3:75382434..75506050hg19UCSC Ensembl
Innerchr3:75465124..75588740hg18UCSC Ensembl
Innerchr3:75465124..75588740hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38123617
hg19123617
hg18123617
hg17123617
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517173
Supporting Variants
Samples
Known GenesFAM86DP
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv679504
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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