A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507698



Internal ID8790642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:51978376..51984376hg38UCSC Ensembl
Outerchr13:52552512..52558512hg19UCSC Ensembl
Outerchr13:51450513..51456513hg18UCSC Ensembl
Outerchr13:51450513..51456513hg17UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619104, nssv617860, nssv623135, nssv620536
SamplesCHM, NA18994, NA15510, NA10860
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)nsv507698
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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