A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3972832



Internal ID19227726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:177660052..177660132hg38UCSC Ensembl
Outerchr2:178524780..178524860hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136444
Supporting Variants
SamplesKWS2
Known GenesPDE11A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3972832
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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