A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv736995



Internal ID16030951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:220053390..220073050hg38UCSC Ensembl
Innerchr1:220226732..220246392hg19UCSC Ensembl
Innerchr1:218293355..218313015hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3819661
hg1919661
hg1819661
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549222
Supporting Variants
Samples
Known GenesBPNT1, RNU5F-1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv736995
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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