A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618126



Internal ID15815931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82661313..82679596hg38UCSC Ensembl
Outerchr17:80619189..80637472hg19UCSC Ensembl
Outerchr17:78212478..78230761hg18UCSC Ensembl
Outerchr17:78212478..78230761hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg383092
hg193092
hg183092
hg173092
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509680
Supporting Variants
SamplesCHM
Known GenesRAB40B
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)nssv618126
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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