A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712949



Internal ID136615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:38249980..38273980hg38UCSC Ensembl
chr17:36405990..36429949hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3824001
hg1923960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5525410
Supporting Variants
Samples
Known GenesLOC440434
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712949
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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