A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14251925



Internal ID21302147
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 Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169376
Supporting Variants
SamplesMLY_12
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14251925
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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