A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618121



Internal ID15815926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:6183933..6195585hg38UCSC Ensembl
Outerchr17:6087253..6098905hg19UCSC Ensembl
Outerchr17:6027977..6039629hg18UCSC Ensembl
Outerchr17:6027977..6039629hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg385111
hg195111
hg185111
hg175111
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509649
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)nssv618121
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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