A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607312



Internal ID16048035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:64420860..65046526hg38UCSC Ensembl
Innerchr7:63881238..64506904hg19UCSC Ensembl
Innerchr7:63518673..64144339hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38625667
hg19625667
hg18625667
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155336
SamplesNINDS_207
Known GenesCCT6P3, ERV3-1, LOC100128885, LOC641746, MIR6839, YWHAEP1, ZNF107, ZNF117, ZNF138, ZNF273, ZNF680
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607312
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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