A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16264331



Internal ID20473549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101747634..101747634hg38UCSC Ensembl
chr12:102141412..102141412hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38620
hg19620
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4759607
Supporting Variants
Samples
Known GenesGNPTAB
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16264331
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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