A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117324



Internal ID18918339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:2746037..2746104hg38UCSC Ensembl
Outerchr3:2787721..2787788hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3988242, nssv3993855
SamplesKWS1, KWS2
Known GenesCNTN4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117324
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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