A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140429



Internal ID18922740
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 StatusM
Merged Variants
Supporting Variantsnssv3987968, nssv3983653
SamplesKWS1, KWS2
Known GenesRGSL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140429
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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