A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045796



Internal ID18788327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51400259..51450243hg38UCSC Ensembl
Innerchr12:51794043..51844027hg19UCSC Ensembl
Innerchr12:50080310..50130294hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3849985
hg1949985
hg1849985
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523535
Samples
Known GenesSLC4A8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045796
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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