A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193035



Internal ID20760076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2625215..3955354hg38UCSC Ensembl
chr17:2528509..3858648hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381330140
hg191330140
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6506401
Supporting Variants
Samples
Known GenesASPA, ATP2A3, C17orf85, CAMKK1, CLUH, CTNS, EMC6, GSG2, ITGAE, MIR1253, MIR6776, OR1A1, OR1A2, OR1D2, OR1D4, OR1D5, OR1E1, OR1E2, OR1G1, OR3A1, OR3A2, OR3A3, OR3A4P, P2RX1, P2RX5, P2RX5-TAX1BP3, PAFAH1B1, RAP1GAP2, SHPK, SPATA22, TAX1BP3, TRPV1, TRPV3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193035
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer