A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1109262



Internal ID19269281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:74834762..74834842hg38UCSC Ensembl
Outerchr2:75061889..75061969hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955906
SamplesKWS1
Known GenesHK2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1109262
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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