A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4860



Internal ID15202926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:63933009..63967789hg38UCSC Ensembl
Outerchr5:63228836..63263616hg19UCSC Ensembl
Outerchr5:63264592..63299372hg18UCSC Ensembl
Outerchr5:63264592..63299372hg17UCSC Ensembl
Cytoband5q12.2
Allele length
AssemblyAllele length
hg384961
hg194961
hg184961
hg174961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3356
SamplesNA12878
Known GenesHTR1A
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)nsv4860
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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