A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7748



Internal ID15189430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:39435098..39468570hg38UCSC Ensembl
Outerchr22:39831103..39864575hg19UCSC Ensembl
Outerchr22:38161049..38194521hg18UCSC Ensembl
Outerchr22:38155603..38189075hg17UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg385908
hg195908
hg185908
hg175908
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3628
Supporting Variants
SamplesNA12156
Known GenesLOC100506472, MGAT3, TAB1
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)nssv7748
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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