A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv654981



Internal ID15044947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108825322..108843844hg38UCSC Ensembl
Innerchr1:109367944..109386466hg19UCSC Ensembl
Innerchr1:109169467..109187989hg18UCSC Ensembl
Innerchr1:109079986..109098508hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3818523
hg1918523
hg1818523
hg1718523
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)nssv654981
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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