A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7726



Internal ID15536138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:39887784..39921979hg38UCSC Ensembl
Outerchr21:41259709..41293904hg19UCSC Ensembl
Outerchr21:40181579..40215774hg18UCSC Ensembl
Outerchr21:40181579..40215774hg17UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg385243
hg195243
hg185243
hg175243
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523
Supporting Variants
SamplesNA12156
Known GenesPCP4
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)nssv7726
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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