A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3675073



Internal ID18973354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2052394..2064482hg38UCSC Ensembl
Innerchr8:2000512..2012602hg19UCSC Ensembl
Innerchr8:1987919..2000009hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3812089
hg1912091
hg1812091
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1028541
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)nssv3675073
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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