A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619642



Internal ID15818223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:112925095..113034073hg38UCSC Ensembl
Outerchr13:113579409..113688387hg19UCSC Ensembl
Outerchr13:112627410..112736388hg18UCSC Ensembl
Outerchr13:112627410..112736388hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg385637
hg195637
hg185637
hg175637
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509519
Supporting Variants
SamplesNA10860
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)nssv619642
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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