A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048573



Internal ID19137792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20359322..21997806hg38UCSC Ensembl
Innerchr15:20564575..22285757hg19UCSC Ensembl
Innerchr15:18824589..19787121hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381638485
hg191721183
hg18962533
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2250n100
Supporting Variantsnssv3713785, nssv3537582, nssv3537583, nssv3537581, nssv3537580, nssv3537579
Samples
Known GenesCT60, 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)nsv1048573
Frequency
Sample Size11257
Observed Gain4
Observed Loss2
Observed Complex0
Frequencyn/a


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