A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146252



Internal ID19200775
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 StatusM
Merged Variants
Supporting Variantsnssv3999452
SamplesKWB1
Known GenesPKHD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146252
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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