A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994956



Internal ID19207313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:30812284..30812684hg38UCSC Ensembl
Outerchr8:30669800..30670200hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144225
Supporting Variants
SamplesKWS1
Known GenesPPP2CB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994956
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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