A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6504890



Internal ID20878154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1507040..1540348hg38UCSC Ensembl
chr17:1410334..1443642hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3833309
hg1933309
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18191804
Samples
Known GenesINPP5K, PITPNA, PITPNA-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6504890
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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