A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136317



Internal ID19256612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:234951956..234952456hg38UCSC Ensembl
Outerchr2:235860600..235861100hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3989934
SamplesKWS2
Known GenesSH3BP4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136317
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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