A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3547



Internal ID15201481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46283787..46321516hg38UCSC Ensembl
Outerchr21:47703701..47741430hg19UCSC Ensembl
Outerchr21:46528129..46565858hg18UCSC Ensembl
Outerchr21:46528129..46565858hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg387184
hg197184
hg187184
hg177184
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5912, nssv4565, nssv6961
SamplesNA12156, NA12878, NA19129
Known GenesC21orf58, MCM3AP, YBEY
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)nsv3547
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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