A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9604



Internal ID15539710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:33473505..33485212hg38UCSC Ensembl
Outerchr21:34845812..34857519hg19UCSC Ensembl
Outerchr21:33767682..33779389hg18UCSC Ensembl
Outerchr21:33767682..33779389hg17UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3813618
hg1913618
hg1813618
hg1713618
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3497
Supporting Variants
SamplesNA18507
Known GenesTMEM50B
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)nssv9604
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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