A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17366518



Internal ID22592187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43736543..43742067hg38UCSC Ensembl
chr12:44130346..44135870hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg385525
hg195525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5946845
Supporting Variants
Samples
Known GenesPUS7L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17366518
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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