A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618948



Internal ID15472066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:49042528..49114703hg38UCSC Ensembl
Outerchr17:47119890..47192065hg19UCSC Ensembl
Outerchr17:44474889..44547064hg18UCSC Ensembl
Outerchr17:44474889..44547064hg17UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3872176
hg1972176
hg1872176
hg1772176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510716
Supporting Variants
SamplesNA10860
Known GenesIGF2BP1
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)nssv618948
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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