A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618977



Internal ID15818781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:80952080..80982717hg38UCSC Ensembl
Outerchr1:81417765..81448402hg19UCSC Ensembl
Outerchr1:81190353..81220990hg18UCSC Ensembl
Outerchr1:81129786..81160423hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3830638
hg1930638
hg1830638
hg1730638
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508348
Supporting Variants
SamplesNA10860
Known Genes
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)nssv618977
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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