A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3619



Internal ID5084188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:37252567..37273707hg19UCSC Ensembl
Outerchr22:35582513..35603653hg18UCSC Ensembl
Outerchr22:35577067..35598207hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg197138
hg187138
hg177138
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1643
SamplesNA19240
Known GenesNCF4
Method
AnalysisSample level sites were merged to generate a set of non-redundant variant regions. Two non-redundant inversion variants (chr 2 positions 89438708-89655419 and 89958869-91208466) were corrected from the original publication for coordinates and associated sample-level data.
PlatformCapillary
Comments
ReferenceKidd et al 2008
Pubmed ID18451855
Accession Number(s)nsv3619
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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