A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169376



Internal ID21313859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27942560..27944711hg38UCSC Ensembl
Outerchr12:27941988..27950527hg38UCSC Ensembl
Innerchr12:28095493..28097644hg19UCSC Ensembl
Outerchr12:28094921..28103460hg19UCSC Ensembl
Innerchr12:27986760..27988911hg18UCSC Ensembl
Outerchr12:27986188..27994727hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg388540
hg198540
hg188540
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14242660, nssv14241397, nssv14247944, nssv14248210, nssv14242791, nssv14248147, nssv14245552, nssv14244153, nssv14241599, nssv14240922, nssv14251375, nssv14245776, nssv14247273, nssv14245904, nssv14242319, nssv14247787, nssv14246192, nssv14248662, nssv14250785, nssv14245244, nssv14242137, nssv14250780, nssv14251925, nssv14247647, nssv14242790, nssv14250405, nssv14244523
SamplesNGO_21, NGO_3, MLY_5, NGO_27, SNI_13, NGO_37, MLY_17, NGO_28, MLY_12, SNI_7, NGO_29, NGO_32, NGO_10, NGO_50, NGO_14, NGO_20, MLY_2, NGO_2, SNI_16, MLY_3, MLY_8, NGO_55, NGO_8, MLY_14, SNI_14, NGO_11, NGO_7
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169376
Frequency
Sample Size93
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer