A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17463528



Internal ID22521414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55832128..55833877hg38UCSC Ensembl
chr12:56225912..56227661hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg381750
hg191750
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5859068
Supporting Variants
Samples
Known GenesTMEM198B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17463528
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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