A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17463685



Internal ID22521571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53470173..53471338hg38UCSC Ensembl
chr12:53863957..53865122hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381166
hg191166
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5863117
Supporting Variants
Samples
Known GenesPCBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17463685
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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