A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975321



Internal ID22750256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:17077752..17077752hg38UCSC Ensembl
chr17:16981066..16981066hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380954
Samples
Known GenesMPRIP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975321
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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