A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv609571



Internal ID16396980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2052469..2069446hg38UCSC Ensembl
Innerchr8:2000587..2017565hg19UCSC Ensembl
Innerchr8:1987994..2004972hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3816978
hg1916979
hg1816979
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11831n54
Supporting Variantsnssv1103699
Samples
Known GenesMYOM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv609571
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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