A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139789



Internal ID18912507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:51816784..51820284hg38UCSC Ensembl
Outerchr3:51850800..51854300hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg383501
hg193501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978126
SamplesKWS2
Known GenesIQCF4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139789
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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