A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17006237



Internal ID71787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:135957352..135957398hg38UCSC Ensembl
chr7:135642100..135642146hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5401730
Supporting Variants
Samples
Known GenesLUZP6, MTPN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17006237
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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