A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987968



Internal ID18876031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:182451351..182451472hg38UCSC Ensembl
Outerchr1:182420486..182420607hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1140429
Supporting Variants
SamplesKWS1
Known GenesRGSL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987968
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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