A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17388781



Internal ID22446651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67494185..67494185hg38UCSC Ensembl
chr17:65490301..65490301hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5971835
Supporting Variants
Samples
Known GenesPITPNC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17388781
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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