A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17465737



Internal ID22523626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27666910..27670709hg38UCSC Ensembl
chr12:27819843..27823642hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg383800
hg193800
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5863733
Supporting Variants
Samples
Known GenesPPFIBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17465737
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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