A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034916



Internal ID18777448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:5895149..6119339hg38UCSC Ensembl
Innerchr7:5934780..6158970hg19UCSC Ensembl
Innerchr7:5901306..6125496hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38224191
hg19224191
hg18224191
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3655071
Samples
Known GenesAIMP2, ANKRD61, CCZ1, EIF2AK1, PMS2, RSPH10B, RSPH10B2, USP42
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034916
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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