A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896376



Internal ID171735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225072410..225108010hg38UCSC Ensembl
chr1:225260112..225295712hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3835601
hg1935601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435017
Supporting Variants
Samples
Known GenesDNAH14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896376
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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