A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705051



Internal ID15441703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:232022933..232044826hg38UCSC Ensembl
Innerchr1:232158679..232180572hg19UCSC Ensembl
Innerchr1:230225302..230247195hg18UCSC Ensembl
Innerchr1:228465414..228487307hg17UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3821894
hg1921894
hg1821894
hg1721894
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528452
Supporting Variants
Samples
Known GenesDISC1, TSNAX-DISC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705051
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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