A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048547



Internal ID18791078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30313356..30442542hg38UCSC Ensembl
Innerchr15:30605559..30734745hg19UCSC Ensembl
Innerchr15:28392851..28522037hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38129187
hg19129187
hg18129187
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2512n100
Supporting Variantsnssv3546748
Samples
Known GenesCHRFAM7A, LOC101059918
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048547
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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