A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509179



Internal ID15825205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170396066..170417031hg38UCSC Ensembl
Outerchr6:170705154..170726119hg19UCSC Ensembl
Outerchr6:170547079..170568044hg18UCSC Ensembl
Outerchr6:170622786..170643751hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg387996
hg197996
hg187996
hg177996
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619471
SamplesNA10860
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)nsv509179
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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