A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509784



Internal ID15477282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63824382..63983325hg38UCSC Ensembl
Outerchr20:62455735..62614678hg19UCSC Ensembl
Outerchr20:61926179..62085122hg18UCSC Ensembl
Outerchr20:61926179..62085122hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg387708
hg197708
hg187708
hg177708
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619851
SamplesNA10860
Known GenesABHD16B, DNAJC5, MIR1914, MIR647, MIR941-1, MIR941-2, MIR941-3, MIR941-4, PRPF6, SAMD10, TPD52L2, UCKL1, UCKL1-AS1, ZNF512B
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)nsv509784
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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