A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3964516



Internal ID19235055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:148849046..148849335hg38UCSC Ensembl
Outerchr3:148566833..148567122hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1111621
Supporting Variants
SamplesKWS2
Known GenesCPB1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3964516
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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