A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5891025



Internal ID22666057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49693626..52462904hg38UCSC Ensembl
chr3:49731059..52496920hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg382769279
hg192765862
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17415908
Samples
Known GenesABHD14A, ABHD14A-ACY1, ABHD14B, ACY1, ALAS1, AMIGO3, BAP1, C3orf18, CACNA2D2, CAMKV, CDHR4, CISH, CYB561D2, DNAH1, DOCK3, DUSP7, FAM212A, GLYCTK, GMPPB, GNAI2, GNAT1, GPR62, GRM2, HEMK1, HYAL1, HYAL2, HYAL3, IFRD2, IP6K1, IQCF1, IQCF2, IQCF3, IQCF4, IQCF5, IQCF6, LINC00696, LSMEM2, MANF, MAPKAPK3, MIR135A1, MIR4787, MIR5193, MIR5787, MIR6872, MIRLET7G, MON1A, MST1R, NAT6, NISCH, NPRL2, PARP3, PCBP4, PHF7, POC1A, PPM1M, RAD54L2, RASSF1, RBM15B, RBM5, RBM5-AS1, RBM6, RNF123, RPL29, RRP9, SEMA3B, SEMA3F, SEMA3G, SLC38A3, TEX264, TLR9, TMEM115, TNNC1, TRAIP, TUSC2, TWF2, UBA7, VPRBP, WDR82, ZMYND10
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5891025
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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