A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712486



Internal ID136152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30535980..30699980hg38UCSC Ensembl
chr17:28862998..29026998hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38164001
hg19164001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144826
Supporting Variants
Samples
Known GenesLRRC37BP1, SH3GL1P2, TBC1D29
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712486
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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