A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17456253



Internal ID22514130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27680466..27683165hg38UCSC Ensembl
chr12:27833399..27836098hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg382700
hg192700
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5849018
Supporting Variants
Samples
Known GenesPPFIBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17456253
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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