A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv624255



Internal ID15476142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:25602236..25608236hg38UCSC Ensembl
Outerchr21:26974548..26980548hg19UCSC Ensembl
Outerchr21:25896419..25902419hg18UCSC Ensembl
Outerchr21:25896419..25902419hg17UCSC Ensembl
Cytoband21q21.3
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 Variantsnsv510501
Supporting Variants
SamplesNA18994
Known GenesMRPL39
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)nssv624255
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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