A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050201



Internal ID19139420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:59875368..59903921hg38UCSC Ensembl
Innerchr12:60269149..60297702hg19UCSC Ensembl
Innerchr12:58555416..58583969hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3828554
hg1928554
hg1828554
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1509n100
Supporting Variantsnssv3523633, nssv3523632
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)nsv1050201
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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