A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv740013



Internal ID15687283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248587139..248629067hg38UCSC Ensembl
Innerchr1:248750440..248792368hg19UCSC Ensembl
Innerchr1:246817063..246858991hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3841929
hg1941929
hg1841929
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549702
Supporting Variants
Samples
Known GenesOR2T10, OR2T11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv740013
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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