A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1547n209



Internal ID22827622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3883398..9639734hg38UCSC Ensembl
chr4:3885125..9641358hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg385756337
hg195756234
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5973087, nsv5979532, nsv5974394
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
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)dgv1547n209
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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