A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508553



Internal ID15824580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:80636230..80677525hg38UCSC Ensembl
Outerchr9:83251145..83292440hg19UCSC Ensembl
Outerchr9:82440965..82482260hg18UCSC Ensembl
Outerchr9:80480699..80521994hg17UCSC Ensembl
Cytoband9q21.31
Allele length
AssemblyAllele length
hg3841296
hg1941296
hg1841296
hg1741296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617372
SamplesCHM
Known Genes
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)nsv508553
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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