A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17006196



Internal ID71757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:135589602..135589653hg38UCSC Ensembl
chr7:135274350..135274401hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560747
Supporting Variants
Samples
Known GenesNUP205
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17006196
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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