A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3432



Internal ID8515023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:167418866..167452640hg38UCSC Ensembl
Outerchr1:167388103..167421877hg19UCSC Ensembl
Outerchr1:165654727..165688501hg18UCSC Ensembl
Outerchr1:164119761..164153535hg17UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg385665
hg195665
hg185665
hg175665
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7770
SamplesNA12156
Known GenesCD247, POU2F1
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)nsv3432
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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