A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6529246



Internal ID20902607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:13149472..13412942hg38UCSC Ensembl
chr20:13130119..13393589hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38263471
hg19263471
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202175
Samples
Known GenesISM1, ISM1-AS1, SPTLC3, TASP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6529246
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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