A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620239



Internal ID15819594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:25671987..25677987hg38UCSC Ensembl
Outerchr4:25673609..25679609hg19UCSC Ensembl
Outerchr4:25282707..25288707hg18UCSC Ensembl
Outerchr4:25349878..25355878hg17UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv507156
Supporting Variants
SamplesNA15510
Known GenesSLC34A2
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)nssv620239
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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