A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623135



Internal ID15821708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:51977962..51983962hg38UCSC Ensembl
Outerchr13:52552098..52558098hg19UCSC Ensembl
Outerchr13:51450099..51456099hg18UCSC Ensembl
Outerchr13:51450099..51456099hg17UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv507698
Supporting Variants
SamplesNA18994
Known GenesATP7B
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)nssv623135
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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