A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3502



Internal ID15548118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:35502603..35536036hg38UCSC Ensembl
Outerchr21:36874901..36908333hg19UCSC Ensembl
Outerchr21:35796771..35830203hg18UCSC Ensembl
Outerchr21:35796771..35830203hg17UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg386008
hg196008
hg186008
hg176008
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7718
SamplesNA12156
Known GenesLOC100506403
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)nsv3502
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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