A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508952



Internal ID15476450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:128612661..128681787hg38UCSC Ensembl
Outerchr3:128331504..128400630hg19UCSC Ensembl
Outerchr3:129814194..129883320hg18UCSC Ensembl
Outerchr3:129814202..129883328hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg385340
hg195340
hg185340
hg175340
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619339
SamplesNA10860
Known GenesRPN1
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)nsv508952
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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