A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3955622



Internal ID18862452
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 StatusS
Merged Variantsnsv1116831
Supporting Variants
SamplesKWS1
Known GenesDOCK10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3955622
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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