A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038100



Internal ID18780631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:59589610..59624964hg38UCSC Ensembl
Innerchr12:59983391..60018745hg19UCSC Ensembl
Innerchr12:58269658..58305012hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3835355
hg1935355
hg1835355
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3712493
Samples
Known GenesSLC16A7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1038100
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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