A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031388



Internal ID19120610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2021565..2051447hg38UCSC Ensembl
Innerchr8:1969726..1999565hg19UCSC Ensembl
Innerchr8:1957133..1986972hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3829883
hg1929840
hg1829840
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3757774
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)nsv1031388
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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