A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043483



Internal ID19132702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19998696..21997806hg38UCSC Ensembl
Innerchr15:20203949..22285757hg19UCSC Ensembl
Innerchr15:18463963..19787121hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381999111
hg192081809
hg181323159
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2190n100
Supporting Variantsnssv3534523, nssv3534524, nssv3715712, nssv3534525
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)nsv1043483
Frequency
Sample Size11257
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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