A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7579



Internal ID15552602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:29020949..29065593hg38UCSC Ensembl
Outerchr1:29347461..29392105hg19UCSC Ensembl
Outerchr1:29220048..29264692hg18UCSC Ensembl
Outerchr1:29168077..29212721hg17UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg3844645
hg1944645
hg1844645
hg1744645
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4053
SamplesNA12878
Known GenesEPB41
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)nsv7579
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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