A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6324208



Internal ID20857333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117889201..117889800hg38UCSC Ensembl
chr1:118431823..118432422hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18051895
Samples
Known GenesGDAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6324208
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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