A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16995978



Internal ID64763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:56852242..56972242hg38UCSC Ensembl
chr7:56919935..57039949hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38120001
hg19120015
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5482809
Supporting Variants
Samples
Known GenesLOC100130849, MIR4283-1, MIR4283-2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16995978
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000471


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