A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4143



Internal ID15548823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:203056038..203063403hg38UCSC Ensembl
Outerchr1:203025166..203032531hg19UCSC Ensembl
Outerchr1:201291789..201299154hg18UCSC Ensembl
Outerchr1:199756823..199764188hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg387366
hg197366
hg187366
hg177366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7975
SamplesNA12156
Known GenesPPFIA4
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)nsv4143
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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