A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508969



Internal ID15824995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:17986173..18052137hg38UCSC Ensembl
Outerchr1:18312667..18378631hg19UCSC Ensembl
Outerchr1:18185254..18251218hg18UCSC Ensembl
Outerchr1:18057973..18123937hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg384175
hg194175
hg184175
hg174175
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623776, nssv619778
SamplesNA18994, NA10860
Known Genes
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)nsv508969
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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