A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049080



Internal ID19138299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:44703781..44801512hg38UCSC Ensembl
Innerchr12:45097564..45195295hg19UCSC Ensembl
Innerchr12:43383831..43481562hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3897732
hg1997732
hg1897732
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3712458
Samples
Known GenesNELL2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049080
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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