A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16977960



Internal ID52711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2093576..2775922hg38UCSC Ensembl
chr6:2093810..2776156hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38682347
hg19682347
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5460709
Supporting Variants
Samples
Known GenesC6orf195, GMDS, GMDS-AS1, MYLK4, WRNIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16977960
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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