A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17003315



Internal ID69829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:137265828..137265879hg38UCSC Ensembl
chr7:136950575..136950626hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5411942
Supporting Variants
Samples
Known GenesPTN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17003315
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002185


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