A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508958



Internal ID15476456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:17244847..17296637hg38UCSC Ensembl
Outerchr1:17571342..17623132hg19UCSC Ensembl
Outerchr1:17443929..17495719hg18UCSC Ensembl
Outerchr1:17316648..17368438hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg383693
hg193693
hg183693
hg173693
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623775, nssv619777, nssv621083
SamplesNA15510, NA18994, NA10860
Known GenesPADI1, PADI3
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)nsv508958
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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