A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17844347



Internal ID22027990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:62703479..62703479hg38UCSC Ensembl
chr12:63097259..63097259hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6241113
Supporting Variants
Samples
Known GenesPPM1H
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17844347
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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