A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030470



Internal ID19119689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2052394..2065114hg38UCSC Ensembl
Innerchr8:2000512..2013234hg19UCSC Ensembl
Innerchr8:1987919..2000641hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3812721
hg1912723
hg1812723
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6808n100
Supporting Variantsnssv3675074
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)nsv1030470
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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