A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169477



Internal ID21313960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68416487..68478894hg38UCSC Ensembl
Outerchr4:68395346..68494770hg38UCSC Ensembl
Innerchr4:69282205..69344612hg19UCSC Ensembl
Outerchr4:69261064..69360488hg19UCSC Ensembl
Innerchr4:68964800..69027207hg18UCSC Ensembl
Outerchr4:68943659..69043083hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3899425
hg1999425
hg1899425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14249247, nssv14246509, nssv14248906, nssv14249689, nssv14251545, nssv14245456, nssv14244209, nssv14241189, nssv14246944, nssv14245170, nssv14244107, nssv14249554, nssv14250261, nssv14244060, nssv14241723, nssv14242956, nssv14244699, nssv14241341, nssv14244559, nssv14251354, nssv14246090, nssv14251473, nssv14245273, nssv14244378, nssv14245806, nssv14244313, nssv14242698, nssv14246455, nssv14252288, nssv14250042, nssv14244843, nssv14249938, nssv14248478, nssv14243134, nssv14249846, nssv14251734, nssv14247129, nssv14248723, nssv14246085, nssv14246628, nssv14241778, nssv14249197, nssv14248276, nssv14248579, nssv14249833, nssv14245702, nssv14251008, nssv14244653, nssv14244499, nssv14252421, nssv14243205
SamplesNGO_21, MLY_15, SNI_17, MLY_6, MLY_5, NGO_27, SNI_13, MLY_1, SNI_11, NGO_37, MLY_11, MLY_12, NGO_29, NGO_32, NGO_10, NGO_45, PML_1, NGO_17, MLY_13, NGO_43, MLY_16, SNI_9, PML_3, NGO_50, MLY_9, NGO_20, SNI_1, MLY_7, MLY_2, PML_2, SNI_16, NGO_6, NGO_33, MLY_3, MLY_8, PML_4, NGO_1, NGO_52, NGO_55, NGO_23, SNI_5, NGO_49, NGO_48, MLY_10, NGO_8, NGO_44, MLY_4, MLY_14, NGO_11, NGO_7, NGO_38
Known GenesTMPRSS11E
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169477
Frequency
Sample Size93
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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