A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv609570



Internal ID16396979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2052469..2067934hg38UCSC Ensembl
Innerchr8:2000587..2016053hg19UCSC Ensembl
Innerchr8:1987994..2003460hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3815466
hg1915467
hg1815467
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11831n54
Supporting Variantsnssv1155952, nssv1103698
SamplesNINDS_159
Known GenesMYOM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv609570
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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