A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712978



Internal ID136644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:38594629..38594629hg38UCSC Ensembl
chr17:36750882..36750882hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5427383
Supporting Variants
Samples
Known GenesSRCIN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712978
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.030442


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