A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv617404



Internal ID15816559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:34980482..34987852hg38UCSC Ensembl
Outerchr13:35554619..35561989hg19UCSC Ensembl
Outerchr13:34452619..34459989hg18UCSC Ensembl
Outerchr13:34452619..34459989hg17UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg387371
hg197371
hg187371
hg177371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510600
Supporting Variants
SamplesCHM
Known GenesNBEA
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)nssv617404
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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