A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136394



Internal ID19260185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:109199333..109199849hg38UCSC Ensembl
Outerchr2:109815789..109816305hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38517
hg19517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3973608, nssv3955935
SamplesKWS2, KWS1
Known GenesSH3RF3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136394
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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