A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040244



Internal ID19129463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19998696..22300068hg38UCSC Ensembl
Innerchr15:20203949..22588019hg19UCSC Ensembl
Innerchr15:18463963..20089383hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382301373
hg192384071
hg181625421
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2191n100
Supporting Variantsnssv3535686, nssv3535687, nssv3535665, nssv3535684, nssv3535683, nssv3535673, nssv3534550, nssv3535681, nssv3535669, nssv3535664, nssv3534549, nssv3715720, nssv3535688, nssv3715721, nssv3535698, nssv3535676, nssv3715718, nssv3535661, nssv3535680, nssv3534551, nssv3535667, nssv3715719, nssv3535697, nssv3535694, nssv3535679, nssv3535675, nssv3535672, nssv3535692, nssv3535696, nssv3534548, nssv3534552, nssv3535662, nssv3535671, nssv3715722, nssv3535690, nssv3535678, nssv3715717, nssv3535677, nssv3535666, nssv3535693, nssv3535699, nssv3535670, nssv3535685, nssv3535691, nssv3535700, nssv3535668, nssv3535674, nssv3535663, nssv3534553, nssv3535695, nssv3535689, nssv3535682
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)nsv1040244
Frequency
Sample Size11257
Observed Gain44
Observed Loss8
Observed Complex0
Frequencyn/a


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