A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv669142



Internal ID15059108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:244386683..244538198hg38UCSC Ensembl
Innerchr1:244549985..244701500hg19UCSC Ensembl
Innerchr1:242616608..242768123hg18UCSC Ensembl
Innerchr1:240876026..241027541hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38151516
hg19151516
hg18151516
hg17151516
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516557
Supporting Variants
Samples
Known GenesADSS, C1orf100, C1orf101
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv669142
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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