A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960975



Internal ID19219009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:169993657..169993821hg38UCSC Ensembl
Outerchr1:169962798..169962962hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1120201
Supporting Variants
SamplesKWS1
Known GenesKIFAP3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3960975
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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