A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685261



Internal ID108927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:127524734..128277540hg38UCSC Ensembl
chr12:128009279..128762085hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38752807
hg19752807
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499349
Supporting Variants
Samples
Known GenesFLJ37505, LINC00507, LOC100996679, LOC101927694, TMEM132C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685261
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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