A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16996941



Internal ID65485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:63604600..63846779hg38UCSC Ensembl
chr7:63064978..63307157hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38242180
hg19242180
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141454
Supporting Variants
Samples
Known GenesMIR4283-1, MIR4283-2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16996941
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000786


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