A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012279



Internal ID18754812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:215808716..215862216hg38UCSC Ensembl
Innerchr1:215982058..216035558hg19UCSC Ensembl
Innerchr1:214048681..214102181hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3853501
hg1953501
hg1853501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3492880
Samples
Known GenesUSH2A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012279
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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