A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18197692



Internal ID20764732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17313484..18689472hg38UCSC Ensembl
chr19:17424293..18800282hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381375989
hg191375990
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6521635
Supporting Variants
Samples
Known GenesANO8, ARRDC2, B3GNT3, BST2, C19orf60, CCDC124, COLGALT1, CRLF1, CRTC1, DDA1, ELL, FAM129C, FCHO1, FKBP8, GDF15, GTPBP3, IFI30, IL12RB1, INSL3, ISYNA1, JAK3, JUND, KCNN1, KIAA1683, KLHL26, KXD1, LOC729966, LRRC25, LSM4, MAP1S, MAST3, MIR3188, MIR3189, MPV17L2, MVB12A, NXNL1, PDE4C, PGLS, PGPEP1, PIK3R2, PLVAP, RAB3A, RPL18A, SLC27A1, SLC5A5, SNORA68, SSBP4, TMEM221, TMEM59L, UBA52, UNC13A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18197692
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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