A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623641



Internal ID15822214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132945342..132982295hg38UCSC Ensembl
Outerchr12:133521928..133558881hg19UCSC Ensembl
Outerchr12:132032001..132068954hg18UCSC Ensembl
Outerchr12:132132278..132169231hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg384325
hg194325
hg184325
hg174325
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509495
Supporting Variants
SamplesNA18994
Known GenesZNF605
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)nssv623641
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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