A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv617471



Internal ID15816626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:226285586..226310645hg38UCSC Ensembl
Outerchr2:227150302..227175361hg19UCSC Ensembl
Outerchr2:226858546..226883605hg18UCSC Ensembl
Outerchr2:226975807..227000866hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3825060
hg1925060
hg1825060
hg1725060
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508201
Supporting Variants
SamplesCHM
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)nssv617471
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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