A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv609046



Internal ID16049769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152253921..152373073hg38UCSC Ensembl
Innerchr7:151951006..152070158hg19UCSC Ensembl
Innerchr7:151581939..151701091hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38119153
hg19119153
hg18119153
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1099595
Samples
Known GenesKMT2C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv609046
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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