A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6448504



Internal ID21106057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:135900001..137301100hg38UCSC Ensembl
chr9:138791847..140195552hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381401100
hg191403706
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7957n223
Supporting Variantsnssv18236497
Samples
Known GenesABCA2, AGPAT2, ANAPC2, C8G, C9orf139, C9orf142, C9orf163, C9orf169, C9orf172, C9orf173, C9orf69, CAMSAP1, CARD9, CCDC183, CCDC183-AS1, CLIC3, DKFZP434A062, DNLZ, DPP7, EDF1, EGFL7, ENTPD2, FAM166A, FAM69B, FBXW5, FUT7, GPSM1, GRIN1, INPP5E, LCN10, LCN12, LCN15, LCN6, LCN8, LCNL1, LHX3, LOC100128593, LOC100129722, LRRC26, MAMDC4, MAN1B1, MAN1B1-AS1, MIR126, MIR3621, MIR4292, MIR4479, MIR4673, MIR4674, MIR6722, NACC2, NDOR1, NELFB, NOTCH1, NPDC1, NRARP, PHPT1, PMPCA, PTGDS, QSOX2, RABL6, RNF208, RNF224, SAPCD2, SDCCAG3, SEC16A, SLC34A3, SNAPC4, SNHG7, SNORA17, SNORA43, SSNA1, TMEM141, TMEM203, TMEM210, TOR4A, TPRN, TRAF2, TUBB4B, UAP1L1, UBAC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6448504
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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