A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14249639



Internal ID21305514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11359558..11390452hg38UCSC Ensembl
Outerchr12:11358644..11390472hg38UCSC Ensembl
Innerchr12:11512492..11543386hg19UCSC Ensembl
Outerchr12:11511578..11543406hg19UCSC Ensembl
Innerchr12:11403759..11434653hg18UCSC Ensembl
Outerchr12:11402845..11434673hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3831829
hg1931829
hg1831829
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169580
Supporting Variants
SamplesNGO_21
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14249639
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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