A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv706005



Internal ID15095971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108827293..108829252hg38UCSC Ensembl
Innerchr1:109369915..109371874hg19UCSC Ensembl
Innerchr1:109171438..109173397hg18UCSC Ensembl
Innerchr1:109081957..109083916hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg381960
hg191960
hg181960
hg171960
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517381
Supporting Variants
Samples
Known GenesAKNAD1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv706005
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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