A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200526



Internal ID20767566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:155481601..157146700hg38UCSC Ensembl
chr1:155451392..157116492hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg381665100
hg191665101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6329527
Supporting Variants
Samples
Known GenesAPOA1BP, ARHGEF11, ARHGEF2, ASH1L, ASH1L-AS1, BCAN, BGLAP, C1orf61, C1orf85, CCT3, CRABP2, CYCSP52, DAP3, ETV3, ETV3L, GON4L, GPATCH4, HAPLN2, HDGF, INSRR, IQGAP3, ISG20L2, KIAA0907, LAMTOR2, LMNA, LRRC71, MEF2D, MEX3A, MIR6738, MIR765, MIR7851, MIR9-1, MRPL24, MSTO1, MSTO2P, NES, NTRK1, PAQR6, PEAR1, PMF1, PMF1-BGLAP, PRCC, RAB25, RHBG, RIT1, RRNAD1, RXFP4, SCARNA4, SEMA4A, SH2D2A, SLC25A44, SMG5, SNORA42, SSR2, SYT11, TMEM79, TSACC, TTC24, UBQLN4, VHLL, YY1AP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200526
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00029


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