A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17429048



Internal ID22486918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151141177..151141177hg38UCSC Ensembl
chr3:150858964..150858964hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5959893
Supporting Variants
Samples
Known GenesMED12L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17429048
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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