A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170093



Internal ID21314154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30084564..30091052hg38UCSC Ensembl
Outerchr12:30082648..30091101hg38UCSC Ensembl
Innerchr12:30237497..30243985hg19UCSC Ensembl
Outerchr12:30235581..30244034hg19UCSC Ensembl
Innerchr12:30128764..30135252hg18UCSC Ensembl
Outerchr12:30126848..30135301hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg388454
hg198454
hg188454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14241481, nssv14250532, nssv14246047, nssv14247139, nssv14252124, nssv14242761, nssv14251429, nssv14242797, nssv14246204, nssv14241456, nssv14252538
SamplesSNI_17, SNI_8, NGO_12, PML_1, MLY_13, SNI_9, NGO_19, NGO_40, NGO_33, PML_4, MLY_14
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3170093
Frequency
Sample Size93
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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