A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14241481



Internal ID21307310
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 Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170093
Supporting Variants
SamplesNGO_33
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14241481
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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