A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17421458



Internal ID22479328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151230799..151234922hg38UCSC Ensembl
chr3:150948587..150952710hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg384124
hg194124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5906252
Supporting Variants
Samples
Known GenesMED12L, P2RY14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17421458
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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