A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509134



Internal ID15476632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:51960196..52003064hg38UCSC Ensembl
Outerchr6:51824994..51867862hg19UCSC Ensembl
Outerchr6:51932953..51975821hg18UCSC Ensembl
Outerchr6:51932953..51975821hg17UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg383707
hg193707
hg183707
hg173707
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620851
SamplesNA15510
Known GenesPKHD1
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nsv509134
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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