A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046380



Internal ID19135599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20011690..22308242hg38UCSC Ensembl
Innerchr15:20216943..22673387hg19UCSC Ensembl
Innerchr15:18476957..20224751hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382296553
hg192456445
hg181747795
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2193n100
Supporting Variantsnssv3537133, nssv3715820, nssv3715823, nssv3537134, nssv3715821, nssv3537132, nssv3715825, nssv3715822, nssv3537131, nssv3715824
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)nsv1046380
Frequency
Sample Size11257
Observed Gain2
Observed Loss8
Observed Complex0
Frequencyn/a


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