A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623891



Internal ID15822464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:233563073..233569073hg38UCSC Ensembl
Outerchr2:234471719..234477719hg19UCSC Ensembl
Outerchr2:234144880..234150880hg18UCSC Ensembl
Outerchr2:234262141..234268141hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508134
Supporting Variants
SamplesNA18994
Known GenesUSP40
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)nssv623891
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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