A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040109



Internal ID19129328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20060713..21997806hg38UCSC Ensembl
Innerchr15:20265966..22285757hg19UCSC Ensembl
Innerchr15:18525980..19787121hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381937094
hg192019792
hg181261142
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2190n100
Supporting Variantsnssv3715945, nssv3538609, nssv3715947, nssv3715946
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040109
Frequency
Sample Size11257
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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