A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620703



Internal ID15820055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:31195011..31201011hg38UCSC Ensembl
Outerchr22:31590997..31596997hg19UCSC Ensembl
Outerchr22:29920997..29926997hg18UCSC Ensembl
Outerchr22:29915551..29921551hg17UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv507933
Supporting Variants
SamplesNA15510
Known GenesRNF185
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)nssv620703
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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