A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510899



Internal ID15478393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:51788752..51828234hg38UCSC Ensembl
Outerchr6:51653550..51693032hg19UCSC Ensembl
Outerchr6:51761509..51800991hg18UCSC Ensembl
Outerchr6:51761509..51800991hg17UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3839483
hg1939483
hg1839483
hg1739483
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621588, nssv624306
SamplesNA18994, NA15510
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)nsv510899
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex2
Frequencyn/a


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