A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607856



Internal ID16048579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:94254287..94451869hg38UCSC Ensembl
Innerchr7:93883599..94081181hg19UCSC Ensembl
Innerchr7:93721535..93919117hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38197583
hg19197583
hg18197583
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155856
SamplesNINDS_71
Known GenesCOL1A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607856
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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