A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508951



Internal ID15824977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:128113186..128145140hg38UCSC Ensembl
Outerchr3:127832029..127863983hg19UCSC Ensembl
Outerchr3:129314719..129346673hg18UCSC Ensembl
Outerchr3:129314727..129346681hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg386888
hg196888
hg186888
hg176888
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618020, nssv619338
SamplesCHM, NA10860
Known GenesRUVBL1
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)nsv508951
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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