A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048557



Internal ID18791088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30094196..30515727hg38UCSC Ensembl
Innerchr15:30386399..30807930hg19UCSC Ensembl
Innerchr15:28173691..28595222hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38421532
hg19421532
hg18421532
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2499n100
Supporting Variantsnssv3546436, nssv3546438, nssv3546437, nssv3546439
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)nsv1048557
Frequency
Sample Size29084
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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