A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023492



Internal ID19112709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2052394..2067934hg38UCSC Ensembl
Innerchr8:2000512..2016053hg19UCSC Ensembl
Innerchr8:1987919..2003460hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3815541
hg1915542
hg1815542
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6808n100
Supporting Variantsnssv3675076, nssv3675075
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)nsv1023492
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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