A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv683120



Internal ID15073086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:231575743..231672639hg38UCSC Ensembl
Innerchr1:231711489..231808385hg19UCSC Ensembl
Innerchr1:229778112..229875008hg18UCSC Ensembl
Innerchr1:228018224..228115120hg17UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3896897
hg1996897
hg1896897
hg1796897
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)nssv683120
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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