A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5276



Internal ID15550069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:246865062..246909796hg38UCSC Ensembl
Outerchr1:247028364..247073098hg19UCSC Ensembl
Outerchr1:245094987..245139721hg18UCSC Ensembl
Outerchr1:243354405..243399139hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3844735
hg1944735
hg1844735
hg1744735
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8288
SamplesNA12156
Known GenesAHCTF1
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)nsv5276
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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