A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6513205



Internal ID20886546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:3396087..3729964hg38UCSC Ensembl
chr17:3299381..3633258hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38333878
hg19333878
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188434
Samples
Known GenesASPA, CTNS, EMC6, GSG2, ITGAE, OR1E1, OR1E2, OR3A3, P2RX5, P2RX5-TAX1BP3, SHPK, SPATA22, TAX1BP3, TRPV1, TRPV3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6513205
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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