A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16999600



Internal ID67310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:90812296..90815746hg38UCSC Ensembl
chr7:90441611..90445061hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg383451
hg193451
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5479881
Supporting Variants
Samples
Known GenesCDK14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16999600
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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