A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17463089



Internal ID22520974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75336401..75344735hg38UCSC Ensembl
chr12:75730181..75738515hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg388335
hg198335
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5859243
Supporting Variants
Samples
Known GenesCAPS2, GLIPR1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17463089
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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