A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1113185



Internal ID18924327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:156309844..156309911hg38UCSC Ensembl
Outerchr1:156279635..156279702hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3968085
SamplesKWS2
Known GenesCCT3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1113185
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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