A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623890



Internal ID15475777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:224947358..224953358hg38UCSC Ensembl
Outerchr2:225812075..225818075hg19UCSC Ensembl
Outerchr2:225520319..225526319hg18UCSC Ensembl
Outerchr2:225637580..225643580hg17UCSC Ensembl
Cytoband2q36.2
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 Variantsnsv508131
Supporting Variants
SamplesNA18994
Known GenesDOCK10
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)nssv623890
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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