A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17469233



Internal ID22527124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56546694..56549000hg38UCSC Ensembl
chr12:56940478..56942784hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg382307
hg192307
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5850466
Supporting Variants
Samples
Known GenesRBMS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17469233
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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