A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510722



Internal ID15826747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:67595721..67701385hg38UCSC Ensembl
Outerchr17:65591837..65697501hg19UCSC Ensembl
Outerchr17:63022299..63127963hg18UCSC Ensembl
Outerchr17:63022299..63127963hg17UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38105665
hg19105665
hg18105665
hg17105665
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618951
SamplesNA10860
Known GenesPITPNC1
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)nsv510722
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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