A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv609568



Internal ID16396977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2007117..2049423hg38UCSC Ensembl
Innerchr8:1955283..1997537hg19UCSC Ensembl
Innerchr8:1942690..1984944hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3842307
hg1942255
hg1842255
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155950
SamplesHGDP00971
Known GenesMYOM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv609568
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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