A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170256



Internal ID21314317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68494770..68686026hg38UCSC Ensembl
Innerchr4:69360488..69551744hg19UCSC Ensembl
Innerchr4:69043083..69234339hg18UCSC Ensembl
Outerchr4:69027207..69378740hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38191257
hg19191257
hg18351534
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14243525, nssv14243468, nssv14249103, nssv14240906, nssv14248135, nssv14250694, nssv14247251, nssv14247494, nssv14250148, nssv14249783, nssv14247749, nssv14246478, nssv14241850, nssv14246225, nssv14244285, nssv14241816, nssv14242863, nssv14246850, nssv14244453, nssv14242187, nssv14251482, nssv14252525, nssv14251981, nssv14247919, nssv14242078, nssv14244147, nssv14242100, nssv14246403, nssv14243548, nssv14244989, nssv14243321, nssv14243259, nssv14249515, nssv14250656, nssv14243431, nssv14249622, nssv14247069, nssv14243777, nssv14241151, nssv14244749, nssv14241424, nssv14251412, nssv14243760, nssv14251028, nssv14242635, nssv14249030, nssv14248287, nssv14241084, nssv14245352, nssv14241295, nssv14242439, nssv14245960, nssv14244175, nssv14242667, nssv14245102, nssv14246495, nssv14243959, nssv14251408, nssv14245685, nssv14251867, nssv14246733, nssv14245603, nssv14246141, nssv14250484, nssv14243638, nssv14249647, nssv14245624, nssv14251886, nssv14244774, nssv14249397, nssv14247239, nssv14246035, nssv14241758, nssv14246692, nssv14242104, nssv14251774, nssv14249175, nssv14251941, nssv14245903, nssv14247429, nssv14250090, nssv14251311, nssv14247715, nssv14245988, nssv14242879, nssv14243119, nssv14242544, nssv14252223, nssv14243781, nssv14243650, nssv14249412, nssv14251669, nssv14246987, nssv14248483, nssv14243547, nssv14247811, nssv14245409, nssv14243796, nssv14251810, nssv14245343, nssv14245686, nssv14245847, nssv14241425, nssv14251416, nssv14242141
SamplesNGO_13, MLY_15, SNI_17, 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, MLY_17, NGO_28, MLY_12, NGO_53, SNI_10, SNI_7, NGO_29, NGO_32, NGO_10, NGO_46, NGO_9, NGO_45, PML_1, NGO_4, NGO_17, MLY_13, NGO_43, MLY_16, SNI_9, NGO_54, NGO_24, NGO_31, NGO_50, NGO_39, NGO_14, NGO_19, NGO_30, MLY_9, NGO_20, SNI_1, MLY_7, NGO_40, MLY_2, PML_2, SNI_16, NGO_25, NGO_6, NGO_33, MLY_3, PML_4, NGO_16, SNI_12, SNI_3, NGO_1, NGO_52, NGO_23, SNI_5, NGO_49, SNI_6, SNI_15, NGO_42, NGO_5, 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 GenesTMPRSS11E, UGT2B15, UGT2B17
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3170256
Frequency
Sample Size93
Observed Gain0
Observed Loss81
Observed Complex0
Frequencyn/a


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