A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118899



Internal ID19251217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:239400106..239401406hg38UCSC Ensembl
Outerchr2:240321800..240323100hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981220
SamplesKWS1
Known GenesHDAC4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118899
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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