A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4687



Internal ID15202735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:223391738..223437020hg38UCSC Ensembl
Outerchr1:223565080..223610362hg19UCSC Ensembl
Outerchr1:221631703..221676985hg18UCSC Ensembl
Outerchr1:219936859..219982141hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3845283
hg1945283
hg1845283
hg1745283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4989
SamplesNA19129
Known GenesC1orf65
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)nsv4687
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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