A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049060



Internal ID18791591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99583024..99632596hg38UCSC Ensembl
Innerchr12:99976802..100026374hg19UCSC Ensembl
Innerchr12:98500933..98550505hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3849573
hg1949573
hg1849573
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1550n100
Supporting Variantsnssv3524860
Samples
Known GenesANKS1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049060
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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