A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020942



Internal ID18763476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:8140025..8485144hg38UCSC Ensembl
Innerchr7:8179655..8524774hg19UCSC Ensembl
Innerchr7:8146180..8491299hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38345120
hg19345120
hg18345120
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6253n100
Supporting Variantsnssv3655110
Samples
Known GenesICA1, NXPH1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020942
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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