A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3141



Internal ID15201035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:209576957..209608970hg38UCSC Ensembl
Outerchr2:210441681..210473694hg19UCSC Ensembl
Outerchr2:210149926..210181939hg18UCSC Ensembl
Outerchr2:210267187..210299200hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg388014
hg198014
hg188014
hg178014
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2311
SamplesNA18555
Known GenesMAP2
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)nsv3141
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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