A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508947



Internal ID6098414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:17236312..17337610hg19UCSC Ensembl
Outerchr1:17108899..17210197hg18UCSC Ensembl
Outerchr1:16981618..17082916hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv623774, nssv619776
SamplesNA18994, NA10860
Known GenesATP13A2, CROCC, MFAP2
Method
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)nsv508947
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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