A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048307



Internal ID19137526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48533731..48565166hg38UCSC Ensembl
Innerchr12:48927514..48958949hg19UCSC Ensembl
Innerchr12:47213781..47245216hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3831436
hg1931436
hg1831436
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1495n100
Supporting Variantsnssv3523523
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)nsv1048307
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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