A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16982632



Internal ID55785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:54050000..54118000hg38UCSC Ensembl
chr6:53914798..53982798hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3868001
hg1968001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5459781
Supporting Variants
Samples
Known GenesMLIP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16982632
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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