A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620800



Internal ID15473466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:67218387..67242177hg38UCSC Ensembl
Outerchr11:66985858..67009648hg19UCSC Ensembl
Outerchr11:66742434..66766224hg18UCSC Ensembl
Outerchr11:66742434..66766224hg17UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg383410
hg193410
hg183410
hg173410
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509419
Supporting Variants
SamplesNA15510
Known GenesKDM2A
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)nssv620800
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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