A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17711136



Internal ID134802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6641462..6641505hg38UCSC Ensembl
chr17:6544782..6544825hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5431221
Supporting Variants
Samples
Known GenesTXNDC17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17711136
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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