A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17377935



Internal ID22435805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60645432..60645669hg38UCSC Ensembl
chr17:58722793..58723030hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5931144
Supporting Variants
Samples
Known GenesPPM1D
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17377935
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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