A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16996052



Internal ID64820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:31761093..31761102hg38UCSC Ensembl
chr7:31800707..31800716hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5542782
Supporting Variants
Samples
Known GenesPDE1C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16996052
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.586481


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