A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944562



Internal ID22720028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29540718..29873240hg38UCSC Ensembl
chr17:27867736..28200258hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38332523
hg19332523
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17374663
Samples
Known GenesABHD15, ANKRD13B, CORO6, GIT1, SSH2, TAOK1, TP53I13
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944562
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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