A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3476



Internal ID15201403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:170534143..170567828hg38UCSC Ensembl
Outerchr1:170503284..170536969hg19UCSC Ensembl
Outerchr1:168769908..168803593hg18UCSC Ensembl
Outerchr1:167234942..167268627hg17UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg385573
hg195573
hg185573
hg175573
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4807
SamplesNA19129
Known GenesGORAB
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)nsv3476
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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