A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509122



Internal ID15476620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:26007578..26064115hg38UCSC Ensembl
Outerchr6:26007806..26064343hg19UCSC Ensembl
Outerchr6:26115785..26172322hg18UCSC Ensembl
Outerchr6:26115785..26172322hg17UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg383718
hg193718
hg183718
hg173718
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623471
SamplesNA18994
Known GenesHIST1H1A, HIST1H1C, HIST1H2AB, HIST1H2BB, HIST1H3A, HIST1H3B, HIST1H3C, HIST1H4A, HIST1H4B
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)nsv509122
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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