A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3991368



Internal ID19245799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:55378750..55378807hg38UCSC Ensembl
Outerchr2:55605886..55605943hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1138776
Supporting Variants
SamplesKWS2
Known GenesCCDC88A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3991368
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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