A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044323



Internal ID19133542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20190264..22308242hg38UCSC Ensembl
Innerchr15:20395517..22673387hg19UCSC Ensembl
Innerchr15:18655531..20224751hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382117979
hg192277871
hg181569221
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2193n100
Supporting Variantsnssv3538124, nssv3716489, nssv3538119, nssv3538120, nssv3716490, nssv3538123, nssv3716493, nssv3538122, nssv3716492, nssv3716494, nssv3716491, nssv3538121, nssv3538117, nssv3538118
Samples
Known GenesCHEK2P2, CT60, 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)nsv1044323
Frequency
Sample Size11257
Observed Gain8
Observed Loss6
Observed Complex0
Frequencyn/a


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