A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4918



Internal ID15202989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:93562720..93607653hg38UCSC Ensembl
Outerchr5:92898426..92943359hg19UCSC Ensembl
Outerchr5:92924182..92969115hg18UCSC Ensembl
Outerchr5:92924182..92969115hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3844934
hg1944934
hg1844934
hg1744934
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8121
SamplesNA12156
Known GenesMIR548AO, NR2F1, NR2F1-AS1
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv4918
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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