A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622600



Internal ID15474487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:95035858..95127840hg38UCSC Ensembl
Outerchr8:96048086..96140068hg19UCSC Ensembl
Outerchr8:96117262..96209244hg18UCSC Ensembl
Outerchr8:96117262..96209244hg17UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3891983
hg1991983
hg1891983
hg1791983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508520
Supporting Variants
SamplesNA18994
Known GenesMIR3150A, MIR3150B, NDUFAF6
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)nssv622600
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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