A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998980



Internal ID18843733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:99520491..99520626hg38UCSC Ensembl
Outerchr14:99986828..99986963hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151800
Supporting Variants
SamplesKWB1
Known GenesCCDC85C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998980
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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