A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053044



Internal ID19142263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:85449252..85548726hg38UCSC Ensembl
Innerchr12:85843030..85942504hg19UCSC Ensembl
Innerchr12:84367161..84466635hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3899475
hg1999475
hg1899475
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3712579
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053044
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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