A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112759



Internal ID19254244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:228399628..228403620hg38UCSC Ensembl
Outerchr2:229264344..229268336hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg383993
hg193993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2166n106
Supporting Variantsnssv3967258
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112759
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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