A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3515



Internal ID15201446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:38378923..38408351hg38UCSC Ensembl
Outerchr21:39750845..39780273hg19UCSC Ensembl
Outerchr21:38672715..38702143hg18UCSC Ensembl
Outerchr21:38672715..38702143hg17UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg384525
hg194525
hg184525
hg174525
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4555
SamplesNA12878
Known GenesERG
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)nsv3515
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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