A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6325982



Internal ID20859116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16989078..17061247hg38UCSC Ensembl
chr1:17315573..17387742hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3872170
hg1972170
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201654
Samples
Known GenesATP13A2, SDHB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6325982
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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