A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2371



Internal ID15194081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:35713114..35744849hg38UCSC Ensembl
Outerchr22:36109161..36140896hg19UCSC Ensembl
Outerchr22:34439107..34470842hg18UCSC Ensembl
Outerchr22:34433661..34465396hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg387544
hg197544
hg187544
hg177544
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3612
Supporting Variants
SamplesNA18555
Known GenesAPOL5, RBFOX2
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)nssv2371
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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