A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17361273



Internal ID22586942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49811733..49819271hg38UCSC Ensembl
chr12:50205516..50213054hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg387539
hg197539
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5931322
Supporting Variants
Samples
Known GenesNCKAP5L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17361273
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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