A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169548



Internal ID21313781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161543969..161668740hg38UCSC Ensembl
Outerchr1:161539085..161678447hg38UCSC Ensembl
Innerchr1:161513759..161638530hg19UCSC Ensembl
Outerchr1:161508875..161648237hg19UCSC Ensembl
Innerchr1:159780383..159905154hg18UCSC Ensembl
Outerchr1:159775499..159914861hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38139363
hg19139363
hg18139363
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14251062, nssv14243519, nssv14243673, nssv14252051, nssv14245588, nssv14241595, nssv14250543, nssv14251751, nssv14248884, nssv14240944, nssv14246534, nssv14252190, nssv14247853, nssv14244891, nssv14251991, nssv14240910, nssv14242041, nssv14247597, nssv14242689, nssv14244566, nssv14247847, nssv14241905, nssv14249636, nssv14241460, nssv14246333, nssv14243971, nssv14252416, nssv14243860, nssv14249183, nssv14241178, nssv14246107, nssv14249823, nssv14247030, nssv14246176, nssv14251804, nssv14251676, nssv14247463, nssv14242947, nssv14247993, nssv14246028, nssv14240801, nssv14251741, nssv14252154, nssv14250816, nssv14241859, nssv14243692, nssv14240984, nssv14251743, nssv14251052, nssv14243963, nssv14251700, nssv14242073, nssv14243412, nssv14247503, nssv14245434, nssv14245226, nssv14250605, nssv14249223, nssv14247997, nssv14252276, nssv14245420, nssv14243720, nssv14250080, nssv14247452, nssv14246354, nssv14242468, nssv14246366, nssv14246846, nssv14252370, nssv14248241, nssv14244324, nssv14249451, nssv14247960, nssv14243315, nssv14244633, nssv14251333, nssv14251617, nssv14251019, nssv14250370, nssv14245299, nssv14245878, nssv14251793, nssv14241809, nssv14248285
SamplesNGO_13, NGO_21, MLY_15, NGO_3, NGO_22, SNI_2, MLY_6, MLY_5, NGO_27, SNI_13, SNI_8, MLY_1, SNI_11, NGO_37, NGO_18, NGO_12, MLY_11, NGO_41, NGO_28, MLY_12, NGO_53, SNI_10, SNI_7, NGO_29, NGO_10, NGO_46, NGO_9, NGO_45, PML_1, NGO_4, NGO_17, NGO_43, MLY_16, NGO_54, NGO_24, NGO_31, NGO_50, NGO_35, NGO_39, NGO_14, NGO_19, NGO_30, MLY_9, NGO_20, NGO_26, SNI_1, MLY_7, NGO_40, MLY_2, NGO_2, SNI_16, NGO_25, NGO_6, NGO_33, MLY_3, MLY_8, PML_4, NGO_16, SNI_3, NGO_1, NGO_52, NGO_55, NGO_36, NGO_23, SNI_5, NGO_49, SNI_6, SNI_15, NGO_42, NGO_34, NGO_5, NGO_48, MLY_10, NGO_8, NGO_44, MLY_4, MLY_14, SNI_14, NGO_11, NGO_7, NGO_51, NGO_15, NGO_38, SNI_4
Known GenesFCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA7
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169548
Frequency
Sample Size93
Observed Gain84
Observed Loss0
Observed Complex0
Frequencyn/a


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