A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17372814



Internal ID22598483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30102087..30102145hg38UCSC Ensembl
chr17:28429105..28429163hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5944401
Supporting Variants
Samples
Known GenesEFCAB5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17372814
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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