A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5562780



Internal ID335724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41964018..42255340hg38UCSC Ensembl
chr17:40116036..40407358hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38291323
hg19291323
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713220
Samples
Known GenesCNP, DHX58, DNAJC7, GHDC, HCRT, HSPB9, KAT2A, KCNH4, NKIRAS2, RAB5C, STAT5B, TTC25, ZNF385C
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5562780
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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