A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619019



Internal ID15472137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17550100..17604891hg38UCSC Ensembl
Outerchr22:18029785..18087657hg19UCSC Ensembl
Outerchr22:16409785..16467657hg18UCSC Ensembl
Outerchr22:16404339..16462211hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3854792
hg1957873
hg1857873
hg1757873
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510802
Supporting Variants
SamplesNA10860
Known GenesATP6V1E1, CECR2, SLC25A18
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)nssv619019
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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