A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16904726



Internal ID3972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77135344..77135441hg38UCSC Ensembl
chr1:77601029..77601126hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5428240
Supporting Variants
Samples
Known GenesPIGK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16904726
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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