A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169580



Internal ID21313813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11328332..11390452hg38UCSC Ensembl
Outerchr12:11325747..11390472hg38UCSC Ensembl
Innerchr12:11481266..11543386hg19UCSC Ensembl
Outerchr12:11478681..11543406hg19UCSC Ensembl
Innerchr12:11372533..11434653hg18UCSC Ensembl
Outerchr12:11369948..11434673hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3864726
hg1964726
hg1864726
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14246597, nssv14242117, nssv14245726, nssv14241323, nssv14250016, nssv14252422, nssv14244103, nssv14247565, nssv14247209, nssv14243496, nssv14249179, nssv14251764, nssv14241515, nssv14250366, nssv14247489, nssv14245682, nssv14252198, nssv14242867, nssv14244927, nssv14245834, nssv14243442, nssv14249084, nssv14242281, nssv14251502, nssv14248397, nssv14243907, nssv14249414, nssv14251039, nssv14242411, nssv14244166, nssv14243913, nssv14248272, nssv14248042, nssv14248829, nssv14246213, nssv14252445, nssv14242602, nssv14251493, nssv14245760, nssv14250931, nssv14248458, nssv14249536, nssv14251985, nssv14249639
SamplesNGO_13, NGO_21, MLY_15, NGO_22, MLY_6, NGO_27, NGO_37, NGO_18, NGO_12, MLY_11, MLY_17, NGO_53, NGO_32, PML_1, NGO_17, NGO_43, NGO_31, NGO_14, NGO_19, NGO_30, NGO_20, SNI_1, NGO_40, NGO_25, NGO_6, NGO_33, MLY_8, PML_4, NGO_55, NGO_36, NGO_23, SNI_5, NGO_42, NGO_34, NGO_48, MLY_10, NGO_44, NGO_7, NGO_51, NGO_38
Known GenesPRB1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169580
Frequency
Sample Size93
Observed Gain18
Observed Loss22
Observed Complex0
Frequencyn/a


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