A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509768



Internal ID15477266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:246774411..246839406hg38UCSC Ensembl
Outerchr1:246937713..247002708hg19UCSC Ensembl
Outerchr1:245004336..245069331hg18UCSC Ensembl
Outerchr1:243263754..243328749hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg385347
hg195347
hg185347
hg175347
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618002, nssv623820, nssv621117, nssv619834
SamplesCHM, NA18994, NA15510, NA10860
Known GenesAHCTF1, LOC149134
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)nsv509768
Frequency
Sample Size4
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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