A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2622



Internal ID15547185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:16647925..16682130hg38UCSC Ensembl
Outerchr2:16829193..16863398hg19UCSC Ensembl
Outerchr2:16692674..16726879hg18UCSC Ensembl
Outerchr2:16750821..16785026hg17UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg385824
hg195824
hg185824
hg175824
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3012
SamplesNA18555
Known GenesFAM49A
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)nsv2622
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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