A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3088



Internal ID15547662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:156710832..156721260hg38UCSC Ensembl
Outerchr1:156680624..156691052hg19UCSC Ensembl
Outerchr1:154947248..154957676hg18UCSC Ensembl
Outerchr1:153493697..153504125hg17UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg385824
hg195824
hg185824
hg175824
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7706
SamplesNA12156
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)nsv3088
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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