A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17450975



Internal ID22508848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102185631..102197330hg38UCSC Ensembl
chr12:102579409..102591108hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3811700
hg1911700
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5866920
Supporting Variants
Samples
Known GenesPARPBP, PMCH
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17450975
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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