A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132958



Internal ID18912037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:51871302..51872002hg38UCSC Ensembl
Outerchr6:51736100..51736800hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3315n106
Supporting Variantsnssv3987752
SamplesKWS1
Known GenesPKHD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132958
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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