A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112760



Internal ID18929584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:46542561..46542961hg38UCSC Ensembl
Outerchr2:46769700..46770100hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3989916, nssv3981186
SamplesKWS2, KWS1
Known GenesRHOQ
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112760
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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