A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038109



Internal ID18780640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1835319..1876061hg38UCSC Ensembl
Innerchr12:1944485..1985227hg19UCSC Ensembl
Innerchr12:1814746..1855488hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3840743
hg1940743
hg1840743
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1338n100
Supporting Variantsnssv3505667
Samples
Known GenesCACNA2D4, LRTM2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1038109
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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