A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114060



Internal ID18901755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:24237368..24237426hg38UCSC Ensembl
Outerchr2:24460237..24460295hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3973543, nssv3956249
SamplesKWS1, KWS2
Known GenesITSN2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114060
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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