A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv685923



Internal ID15075889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:231575743..231672969hg38UCSC Ensembl
Innerchr1:231711489..231808715hg19UCSC Ensembl
Innerchr1:229778112..229875338hg18UCSC Ensembl
Innerchr1:228018224..228115450hg17UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3897227
hg1997227
hg1897227
hg1797227
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516935
Supporting Variants
Samples
Known GenesDISC1, LINC00582, TSNAX-DISC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv685923
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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