A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17452621



Internal ID22510494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51500563..51502571hg38UCSC Ensembl
chr12:51894347..51896355hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg382009
hg192009
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5853670
Supporting Variants
Samples
Known GenesSLC4A8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17452621
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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