A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170147



Internal ID21314208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:105453957..105487979hg38UCSC Ensembl
Outerchr1:105442070..105491310hg38UCSC Ensembl
Innerchr1:105996579..106030601hg19UCSC Ensembl
Outerchr1:105984692..106033932hg19UCSC Ensembl
Innerchr1:105798102..105832124hg18UCSC Ensembl
Outerchr1:105786215..105835455hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3849241
hg1949241
hg1849241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14242962, nssv14248945, nssv14244534, nssv14251456, nssv14248951, nssv14247518, nssv14241361, nssv14251945, nssv14249494, nssv14241593, nssv14244866, nssv14244271, nssv14252536, nssv14243387, nssv14243840, nssv14241264, nssv14240992, nssv14248309, nssv14251200, nssv14247553, nssv14246940, nssv14243507, nssv14243960, nssv14247995, nssv14251572, nssv14242802, nssv14241155, nssv14242911, nssv14246773, nssv14240808, nssv14244194, nssv14247325, nssv14244354, nssv14242276, nssv14245848, nssv14252339, nssv14246232, nssv14240775, nssv14244968, nssv14247477, nssv14242898, nssv14250445, nssv14242365, nssv14251851, nssv14242225, nssv14250051, nssv14244618, nssv14250378, nssv14244196, nssv14245009, nssv14249336, nssv14243297, nssv14247877
SamplesNGO_21, MLY_15, SNI_17, NGO_3, MLY_6, MLY_5, SNI_13, MLY_1, NGO_18, MLY_17, MLY_12, NGO_53, SNI_10, SNI_7, NGO_10, NGO_9, NGO_45, PML_1, NGO_17, MLY_16, NGO_24, PML_3, NGO_50, NGO_14, NGO_30, MLY_9, NGO_26, SNI_1, MLY_7, NGO_47, MLY_2, NGO_2, SNI_16, NGO_33, MLY_3, MLY_8, PML_4, SNI_12, SNI_3, NGO_1, NGO_52, NGO_49, SNI_6, SNI_15, NGO_42, NGO_34, NGO_48, NGO_44, MLY_4, SNI_14, NGO_51, SNI_4
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3170147
Frequency
Sample Size93
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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