A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6450572



Internal ID21108125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:135800101..137359000hg38UCSC Ensembl
chr9:138691947..140253452hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381558900
hg191561506
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7957n223
Supporting Variantsnssv18223822
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, EXD3, 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)nsv6450572
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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