A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17735530



Internal ID159196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53044656..53044793hg38UCSC Ensembl
chr6:52909454..52909591hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5470726
Supporting Variants
Samples
Known GenesICK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17735530
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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