A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621764



Internal ID15472301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:121831474..121837474hg38UCSC Ensembl
Outerchr4:122752629..122758629hg19UCSC Ensembl
Outerchr4:122972079..122978079hg18UCSC Ensembl
Outerchr4:123110234..123116234hg17UCSC Ensembl
Cytoband4q27
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 Variantsnsv507195
Supporting Variants
SamplesNA10860
Known GenesBBS7
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)nssv621764
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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