A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6327001



Internal ID20860138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12493100..12494611hg38UCSC Ensembl
chr1:12553154..12554665hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381512
hg191512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18051400
Samples
Known GenesVPS13D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6327001
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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