A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621083



Internal ID15473747
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
hg383359
hg193359
hg183359
hg173359
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508958
Supporting Variants
SamplesNA15510
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)nssv621083
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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