A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027679



Internal ID18770211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:5721100..6016988hg38UCSC Ensembl
Innerchr7:5760731..6056619hg19UCSC Ensembl
Innerchr7:5727257..6023145hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38295889
hg19295889
hg18295889
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6241n100
Supporting Variantsnssv3655063
Samples
Known GenesAIMP2, CCZ1, OCM, PMS2, RNF216, RSPH10B, RSPH10B2, ZNF815P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027679
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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