A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122924



Internal ID18919071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:90085131..90085201hg38UCSC Ensembl
Outerchr14:90551475..90551545hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3971516
SamplesKWS2
Known GenesKCNK13
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122924
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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