A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509783



Internal ID15825809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63054095..63100178hg38UCSC Ensembl
Outerchr20:61685447..61731530hg19UCSC Ensembl
Outerchr20:61155892..61201975hg18UCSC Ensembl
Outerchr20:61155892..61201975hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg384948
hg194948
hg184948
hg174948
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619850
SamplesNA10860
Known GenesHAR1B, LOC63930
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)nsv509783
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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