A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509246



Internal ID15825272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:51902982..51939278hg38UCSC Ensembl
Outerchr1:52368654..52404950hg19UCSC Ensembl
Outerchr1:52141242..52177538hg18UCSC Ensembl
Outerchr1:52080675..52116971hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg384611
hg194611
hg184611
hg174611
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621095, nssv619794, nssv617994
SamplesCHM, NA15510, NA10860
Known GenesRAB3B
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)nsv509246
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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