A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125815



Internal ID18937380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:70336687..70336907hg38UCSC Ensembl
Outerchr4:71202404..71202624hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38221
hg19221
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3988289, nssv3979861
SamplesKWS1, KWS2
Known GenesCABS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125815
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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