A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508900



Internal ID15476398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241177974..241244786hg38UCSC Ensembl
Outerchr2:242117389..242184201hg19UCSC Ensembl
Outerchr2:241766062..241832874hg18UCSC Ensembl
Outerchr2:241837379..241904191hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383299
hg193299
hg183299
hg173299
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621191
SamplesNA15510
Known GenesANO7, HDLBP, PPP1R7
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)nsv508900
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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