A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16995045



Internal ID64126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:29674660..30295579hg38UCSC Ensembl
chr7:29714276..30335195hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38620920
hg19620920
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5555679
Supporting Variants
Samples
Known GenesDPY19L2P3, FKBP14, LOC646762, MIR550A1, MIR550A3, MIR550B1, MTURN, PLEKHA8, SCRN1, WIPF3, ZNRF2, ZNRF2P2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16995045
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000468


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