A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1155952



Internal ID15880118
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 StatusS
Merged Variantsnsv609570
Supporting Variants
SamplesNINDS_159
Known GenesMYOM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1155952
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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