A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041286



Internal ID19130505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7842179..7978362hg38UCSC Ensembl
Innerchr12:7994775..8130958hg19UCSC Ensembl
Innerchr12:7886042..8022225hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38136184
hg19136184
hg18136184
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1355n100
Supporting Variantsnssv3708120, nssv3708117, nssv3708118, nssv3509926, nssv3507209, nssv3708119, nssv3516443, nssv3708116, nssv3517947, nssv3522718, nssv3708114, nssv3515475, nssv3505864, nssv3708115, nssv3504203, nssv3506366, nssv3504885
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041286
Frequency
Sample Size11257
Observed Gain16
Observed Loss1
Observed Complex0
Frequencyn/a


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