A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5946315



Internal ID22721803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:58727078..58727381hg38UCSC Ensembl
chr17:56804439..56804742hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17383427
Samples
Known GenesRAD51C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5946315
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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