A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6559192



Internal ID20932263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:4003834..9640917hg38UCSC Ensembl
chr4:4005561..9642541hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg385637084
hg195636981
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5139n223
Supporting Variantsnssv18265227
Samples
Known GenesABLIM2, ACOX3, AFAP1, AFAP1-AS1, BLOC1S4, C4orf6, CCDC96, CPZ, CRMP1, CYTL1, DEFB131, EVC, EVC2, 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)nsv6559192
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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