A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2799



Internal ID15200676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:150791723..150805959hg38UCSC Ensembl
Outerchr1:150764199..150778435hg19UCSC Ensembl
Outerchr1:149030823..149045059hg18UCSC Ensembl
Outerchr1:147577272..147591508hg17UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg385014
hg195014
hg185014
hg175014
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3372
SamplesNA12878
Known GenesCTSK
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)nsv2799
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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