A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048558



Internal ID18791089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30628409..30680221hg38UCSC Ensembl
Innerchr15:30920612..30972424hg19UCSC Ensembl
Innerchr15:28707904..28759716hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg3851813
hg1951813
hg1851813
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2531n100
Supporting Variantsnssv3547629
Samples
Known GenesARHGAP11B, LOC100288637
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048558
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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