A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv604259



Internal ID16044982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:99855390..100194991hg38UCSC Ensembl
Innerchr6:100303266..100642867hg19UCSC Ensembl
Innerchr6:100409987..100749588hg18UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg38339602
hg19339602
hg18339602
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1070555
Samples
Known GenesMCHR2, MCHR2-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv604259
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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