A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509650



Internal ID15477148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:7299079..7338714hg38UCSC Ensembl
Outerchr17:7202398..7242033hg19UCSC Ensembl
Outerchr17:7143122..7182757hg18UCSC Ensembl
Outerchr17:7143122..7182757hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg384606
hg194606
hg184606
hg174606
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619709, nssv623710
SamplesNA18994, NA10860
Known GenesACAP1, EIF5A, GPS2, NEURL4
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)nsv509650
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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