A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3675072



Internal ID18973353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2051447..2064482hg38UCSC Ensembl
Innerchr8:1999565..2012602hg19UCSC Ensembl
Innerchr8:1986972..2000009hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3813036
hg1913038
hg1813038
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1020091
Supporting Variants
Samples
Known GenesMYOM2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3675072
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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