A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5139n223



Internal ID22808107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3940291..9640917hg38UCSC Ensembl
chr4:3942018..9642541hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg385700627
hg195700524
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6558994, nsv6569767, nsv6568973, nsv6572407, nsv6571470, nsv6559192, nsv6557098
Samples
Known GenesABLIM2, ACOX3, AFAP1, AFAP1-AS1, BLOC1S4, C4orf6, CCDC96, CPZ, CRMP1, CYTL1, DEFB131, EVC, EVC2, FAM86EP, FLJ36777, GPR78, GRPEL1, HMX1, HTRA3, JAKMIP1, KIAA0232, LOC100129931, LOC285484, LOC650293, LOC93622, LYAR, MAN2B2, MIR378D1, MIR4274, MIR4798, MIR548I2, MRFAP1, MRFAP1L1, MSX1, NSG1, OTOP1, PPP2R2C, PSAPL1, S100P, SH3TC1, SORCS2, STK32B, STX18, STX18-AS1, TADA2B, TBC1D14, TMEM128, TRMT44, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP17L6P, USP17L9P, WFS1, ZBTB49
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv5139n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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