A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6502387



Internal ID20875631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56881125..56885696hg38UCSC Ensembl
chr16:56915037..56919608hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg384572
hg194572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18030240
Samples
Known GenesSLC12A3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6502387
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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