A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16980433



Internal ID54335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31752000..31862000hg38UCSC Ensembl
chr6:31719777..31829777hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38110001
hg19110001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140608
Supporting Variants
Samples
Known GenesC6orf48, HSPA1A, HSPA1B, HSPA1L, LSM2, MSH5, MSH5-SAPCD1, NEU1, SAPCD1, SNORD48, SNORD52, VARS, VWA7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16980433
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000633


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