A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2349



Internal ID15194105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42650074..42681450hg38UCSC Ensembl
Outerchr21:44070184..44101560hg19UCSC Ensembl
Outerchr21:42943253..42974629hg18UCSC Ensembl
Outerchr21:42943253..42974629hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg388654
hg198654
hg188654
hg178654
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3534
Supporting Variants
SamplesNA18555
Known GenesPDE9A
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)nssv2349
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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