A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524



Internal ID15548142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:39949224..39983285hg38UCSC Ensembl
Outerchr21:41321151..41355212hg19UCSC Ensembl
Outerchr21:40243021..40277082hg18UCSC Ensembl
Outerchr21:40243021..40277082hg17UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg384766
hg194766
hg184766
hg174766
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1626, nssv4557
SamplesNA12878, NA19240
Known Genes
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)nsv3524
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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