A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv691278



Internal ID15081244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:124325975..124331200hg38UCSC Ensembl
Innerchr8:125338216..125343441hg19UCSC Ensembl
Innerchr8:125407397..125412622hg18UCSC Ensembl
Innerchr8:125407397..125412622hg17UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg385226
hg195226
hg185226
hg175226
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516190
Supporting Variants
Samples
Known GenesTMEM65
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv691278
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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