A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6506401



Internal ID20879680
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 StatusM
Merged Variants
Supporting Variantsnssv18193035
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)nsv6506401
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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