A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7757



Internal ID15536107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:46463269..46488689hg38UCSC Ensembl
Outerchr22:46859166..46884586hg19UCSC Ensembl
Outerchr22:45237830..45263250hg18UCSC Ensembl
Outerchr22:45179685..45205105hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg385494
hg195494
hg185494
hg175494
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3653
Supporting Variants
SamplesNA12156
Known GenesCELSR1
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)nssv7757
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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