A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116831



Internal ID18920883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:225018825..225018885hg38UCSC Ensembl
Outerchr2:225883542..225883602hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955622
SamplesKWS1
Known GenesDOCK10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116831
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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