A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv717545



Internal ID15664815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:74731849..74734802hg38UCSC Ensembl
Innerchr1:75197533..75200486hg19UCSC Ensembl
Innerchr1:74970121..74973074hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg382954
hg192954
hg182954
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546579
Supporting Variants
Samples
Known GenesCRYZ, TYW3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv717545
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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