A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607816



Internal ID16395225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:93534407..93593493hg38UCSC Ensembl
Innerchr7:93163719..93222805hg19UCSC Ensembl
Innerchr7:93001655..93060741hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3859087
hg1959087
hg1859087
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155368
SamplesHGDP00056
Known GenesCALCR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607816
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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