A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3276



Internal ID15201183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161835655..161857481hg38UCSC Ensembl
Outerchr1:161805445..161827271hg19UCSC Ensembl
Outerchr1:160072069..160093895hg18UCSC Ensembl
Outerchr1:158537103..158558929hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg386862
hg196862
hg186862
hg176862
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4786
SamplesNA19129
Known GenesATF6
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)nsv3276
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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