A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618125



Internal ID15469244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:73133907..73155125hg38UCSC Ensembl
Outerchr17:71130046..71151264hg19UCSC Ensembl
Outerchr17:68641641..68662859hg18UCSC Ensembl
Outerchr17:68641641..68662859hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg386099
hg196099
hg186099
hg176099
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509670
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)nssv618125
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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