A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17603269



Internal ID21795316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26775991..26785394hg38UCSC Ensembl
chr12:26928924..26938327hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg389404
hg199404
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6030943
Supporting Variants
Samples
Known GenesITPR2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17603269
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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