A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16995040



Internal ID64121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:29640242..29748350hg38UCSC Ensembl
chr7:29679858..29787966hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38108109
hg19108109
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5483908
Supporting Variants
Samples
Known GenesDPY19L2P3, LOC646762, MIR550A3, ZNRF2P2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16995040
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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