A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508555



Internal ID15824582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:81892784..81965113hg38UCSC Ensembl
Outerchr9:84507699..84580028hg19UCSC Ensembl
Outerchr9:83697519..83769848hg18UCSC Ensembl
Outerchr9:81737253..81809582hg17UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg3872330
hg1972330
hg1872330
hg1772330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618857, nssv622613
SamplesNA18994, NA10860
Known GenesSPATA31D3, SPATA31D4, SPATA31D5P
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)nsv508555
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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