A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508552



Internal ID15824579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:76249997..76341410hg38UCSC Ensembl
Outerchr9:78864913..78956326hg19UCSC Ensembl
Outerchr9:78054733..78146146hg18UCSC Ensembl
Outerchr9:76094467..76185880hg17UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg3891414
hg1991414
hg1891414
hg1791414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620026
SamplesNA15510
Known GenesPCSK5
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)nsv508552
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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