A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3799



Internal ID15548444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:181950332..181966595hg38UCSC Ensembl
Outerchr1:181919467..181935730hg19UCSC Ensembl
Outerchr1:180186090..180202353hg18UCSC Ensembl
Outerchr1:178651124..178667387hg17UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg388167
hg198167
hg188167
hg178167
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3561
SamplesNA12878
Known Genes
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)nsv3799
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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