A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607511



Internal ID16394920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75700353..75750787hg38UCSC Ensembl
Innerchr7:75329671..75380105hg19UCSC Ensembl
Innerchr7:75167607..75218041hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3850435
hg1950435
hg1850435
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11453n54
Supporting Variantsnssv1154972
SamplesNINDS_147
Known GenesHIP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607511
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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