A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623499



Internal ID15822072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170372434..170391243hg38UCSC Ensembl
Outerchr6:170681522..170700331hg19UCSC Ensembl
Outerchr6:170523447..170542256hg18UCSC Ensembl
Outerchr6:170599154..170617963hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg386411
hg196411
hg186411
hg176411
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509178
Supporting Variants
SamplesNA18994
Known GenesFAM120B
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)nssv623499
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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