A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054665



Internal ID104271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6427941..6515260hg38UCSC Ensembl
chr12:6537107..6624426hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3887320
hg1987320
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5562873
Supporting Variants
Samples
Known GenesCD27, CD27-AS1, MRPL51, NCAPD2, SCARNA10, TAPBPL, VAMP1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054665
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000312


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