A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999452



Internal ID18847001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:51899401..51901602hg38UCSC Ensembl
Outerchr6:51764199..51766400hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg382202
hg192202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146252
Supporting Variants
SamplesKWB1
Known GenesPKHD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999452
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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