A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv604596



Internal ID16392005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:124320615..124356077hg38UCSC Ensembl
Innerchr6:124641761..124677223hg19UCSC Ensembl
Innerchr6:124683460..124718922hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3835463
hg1935463
hg1835463
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1154895
SamplesHGDP00066
Known GenesNKAIN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv604596
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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