A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509519



Internal ID15825545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:112925095..113099584hg38UCSC Ensembl
Outerchr13:113579409..113753898hg19UCSC Ensembl
Outerchr13:112627410..112801899hg18UCSC Ensembl
Outerchr13:112627410..112801899hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg385637
hg195637
hg185637
hg175637
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623653, nssv619642
SamplesNA18994, NA10860
Known GenesMCF2L, MCF2L-AS1
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)nsv509519
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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