A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051770



Internal ID19140989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1840873..1876061hg38UCSC Ensembl
Innerchr12:1950039..1985227hg19UCSC Ensembl
Innerchr12:1820300..1855488hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3835189
hg1935189
hg1835189
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1338n100
Supporting Variantsnssv3508936, nssv3518397
Samples
Known GenesCACNA2D4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051770
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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