A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043212



Internal ID19132431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20305889..22300068hg38UCSC Ensembl
Innerchr15:20511142..22588019hg19UCSC Ensembl
Innerchr15:18771156..20089383hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381994180
hg192076878
hg181318228
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2191n100
Supporting Variantsnssv3536110, nssv3536113, nssv3713711, nssv3536109, nssv3536112, nssv3713710, nssv3536108, nssv3713709, nssv3536111
Samples
Known GenesCT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043212
Frequency
Sample Size11257
Observed Gain8
Observed Loss1
Observed Complex0
Frequencyn/a


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