A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048016



Internal ID18790547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30608663..30790060hg38UCSC Ensembl
Innerchr15:30900866..31082263hg19UCSC Ensembl
Innerchr15:28688158..28869555hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38181398
hg19181398
hg18181398
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2529n100
Supporting Variantsnssv3721581, nssv3547622
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)nsv1048016
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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