A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7546



Internal ID15205880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:28165701..28183455hg38UCSC Ensembl
Outerchr1:28492212..28509966hg19UCSC Ensembl
Outerchr1:28364799..28382553hg18UCSC Ensembl
Outerchr1:28176354..28194108hg17UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg3817755
hg1917755
hg1817755
hg1717755
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8875
SamplesNA12156
Known GenesPTAFR
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)nsv7546
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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