A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620666



Internal ID15820018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:112460213..112466213hg38UCSC Ensembl
Outerchr1:113002835..113008835hg19UCSC Ensembl
Outerchr1:112804358..112810358hg18UCSC Ensembl
Outerchr1:112714877..112720877hg17UCSC Ensembl
Cytoband1p13.2
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 Variantsnsv506955
Supporting Variants
SamplesNA15510
Known GenesCTTNBP2NL, MIR4256
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)nssv620666
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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