A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6956



Internal ID15190222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:37054434..37086086hg38UCSC Ensembl
Outerchr21:38426734..38458386hg19UCSC Ensembl
Outerchr21:37348604..37380256hg18UCSC Ensembl
Outerchr21:37348604..37380256hg17UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg387783
hg197783
hg187783
hg177783
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3510
Supporting Variants
SamplesNA12156
Known GenesPIGP, TTC3
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)nssv6956
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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