A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509598



Internal ID15477096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:15025400..15067337hg38UCSC Ensembl
Outerchr16:15119257..15161194hg19UCSC Ensembl
Outerchr16:15026758..15068695hg18UCSC Ensembl
Outerchr16:15026758..15068695hg17UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg383418
hg193418
hg183418
hg173418
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623687
SamplesNA18994
Known GenesNTAN1, PDXDC1, RRN3
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)nsv509598
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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