A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6496002



Internal ID20869199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:3564725..4578738hg38UCSC Ensembl
chr17:3468019..4482033hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381014014
hg191014015
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18184063
Samples
Known GenesANKFY1, ATP2A3, C17orf85, CAMKK1, CTNS, CYB5D2, EMC6, GGT6, GSG2, ITGAE, MYBBP1A, P2RX1, P2RX5, P2RX5-TAX1BP3, SHPK, SPNS2, SPNS3, TAX1BP3, TRPV1, UBE2G1, ZZEF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6496002
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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