A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508200



Internal ID15479876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:219134744..219202175hg38UCSC Ensembl
Outerchr2:219999466..220066897hg19UCSC Ensembl
Outerchr2:219707710..219775141hg18UCSC Ensembl
Outerchr2:219824971..219892402hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3867432
hg1967432
hg1867432
hg1767432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618706, nssv617470, nssv622447
SamplesCHM, NA18994, NA10860
Known GenesCNPPD1, FAM134A, NHEJ1, SLC23A3
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)nsv508200
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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