A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv624200



Internal ID15476087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:13263228..13269228hg38UCSC Ensembl
Outerchr19:13374042..13380042hg19UCSC Ensembl
Outerchr19:13235042..13241042hg18UCSC Ensembl
Outerchr19:13235042..13241042hg17UCSC Ensembl
Cytoband19p13.13
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 Variantsnsv510468
Supporting Variants
SamplesNA18994
Known GenesCACNA1A
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)nssv624200
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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