A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17485687



Internal ID22543598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151244948..151248201hg38UCSC Ensembl
chr3:150962736..150965989hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg383254
hg193254
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5834713
Supporting Variants
Samples
Known GenesMED12L, P2RY14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17485687
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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