A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977244



Internal ID22752179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42587297..42587297hg38UCSC Ensembl
chr12:42981099..42981099hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38468
hg19468
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17357410
Samples
Known GenesPRICKLE1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977244
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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