A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2530n100



Internal ID20154146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:30608663..30807411hg38UCSC Ensembl
chr15:30900866..31099614hg19UCSC Ensembl
chr15:28688158..28886906hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38198749
hg19198749
hg18198749
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1039969, nsv1042463, nsv1041226, nsv1052679, nsv1043971, nsv1055127, nsv1040388
Samples
Known GenesARHGAP11B, GOLGA8H, LOC100288637
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2530n100
Frequency
Sample Size29084
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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