A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16983375



Internal ID56290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57050647..57051651hg38UCSC Ensembl
chr6:56915445..56916449hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg381005
hg191005
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5454460
Supporting Variants
Samples
Known GenesKIAA1586
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16983375
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.015147


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