A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969186



Internal ID46781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:135287748..135289781hg38UCSC Ensembl
chr6:135608886..135610919hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg382034
hg192034
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5467232
Supporting Variants
Samples
Known GenesAHI1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969186
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0064


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