A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3623



Internal ID15201565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:38105535..38113801hg38UCSC Ensembl
Outerchr22:38501542..38509808hg19UCSC Ensembl
Outerchr22:36831488..36839754hg18UCSC Ensembl
Outerchr22:36826042..36834308hg17UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg385934
hg195934
hg185934
hg175934
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7746
SamplesNA12156
Known GenesBAIAP2L2, PLA2G6
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)nsv3623
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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