A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618706



Internal ID15471824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:219185795..219202175hg38UCSC Ensembl
Outerchr2:220050517..220066897hg19UCSC Ensembl
Outerchr2:219758761..219775141hg18UCSC Ensembl
Outerchr2:219876022..219892402hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3816381
hg1916381
hg1816381
hg1716381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508200
Supporting Variants
SamplesNA10860
Known Genes
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)nssv618706
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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