A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509147



Internal ID15825173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31487776..31527074hg38UCSC Ensembl
Outerchr1:31960623..31992675hg19UCSC Ensembl
Outerchr1:31733210..31765262hg18UCSC Ensembl
Outerchr1:31629716..31661768hg17UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg388708
hg198708
hg188708
hg178708
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619788, nssv617992, nssv623780, nssv621092
SamplesCHM, NA15510, NA18994, NA10860
Known GenesLOC149086, LOC284551
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)nsv509147
Frequency
Sample Size4
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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