A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047669



Internal ID18790200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30094196..30529543hg38UCSC Ensembl
Innerchr15:30386399..30821746hg19UCSC Ensembl
Innerchr15:28173691..28609038hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38435348
hg19435348
hg18435348
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2498n100
Supporting Variantsnssv3546450, nssv3721483, nssv3546447, nssv3546440, nssv3546449, nssv3546446, nssv3546443, nssv3546444, nssv3546452, nssv3546442, nssv3546441, nssv3546445, nssv3546448, nssv3546451
Samples
Known GenesCHRFAM7A, DKFZP434L187, GOLGA8J, GOLGA8T, LOC101059918, ULK4P1, ULK4P2, ULK4P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047669
Frequency
Sample Size29084
Observed Gain4
Observed Loss10
Observed Complex0
Frequencyn/a


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