A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17455954



Internal ID22513831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14499787..14529533hg38UCSC Ensembl
chr12:14652721..14682467hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3829747
hg1929747
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5865836
Supporting Variants
Samples
Known GenesATF7IP, PLBD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17455954
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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