A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999578



Internal ID18812428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:171608936..171641600hg38UCSC Ensembl
Innerchr1:171578076..171610740hg19UCSC Ensembl
Innerchr1:169844699..169877363hg18UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg3832665
hg1932665
hg1832665
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3704817
Samples
Known GenesMYOC
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999578
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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