A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621137



Internal ID15473801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:33457276..33521074hg38UCSC Ensembl
Outerchr21:34829583..34893381hg19UCSC Ensembl
Outerchr21:33751453..33815251hg18UCSC Ensembl
Outerchr21:33751453..33815251hg17UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3811276
hg1911276
hg1811276
hg1711276
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv509795
Supporting Variants
SamplesNA15510
Known GenesDNAJC28, GART, TMEM50B
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)nssv621137
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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