A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509469



Internal ID15476967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:55327584..55354210hg38UCSC Ensembl
Outerchr12:55721368..55747994hg19UCSC Ensembl
Outerchr12:54007635..54034261hg18UCSC Ensembl
Outerchr12:54007635..54034261hg17UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg387300
hg197300
hg187300
hg177300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620969, nssv619609
SamplesNA15510, NA10860
Known GenesOR6C3
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)nsv509469
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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