A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622613



Internal ID15821186
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 StatusS
Merged Variantsnsv508555
Supporting Variants
SamplesNA18994
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)nssv622613
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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