A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623498



Internal ID15475385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170199561..170274264hg38UCSC Ensembl
Outerchr6:170514785..170583352hg19UCSC Ensembl
Outerchr6:170356710..170425277hg18UCSC Ensembl
Outerchr6:170432417..170500984hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg385750
hg195750
hg185750
hg175750
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509177
Supporting Variants
SamplesNA18994
Known GenesFLJ38122, LOC154449
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)nssv623498
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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