A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2363



Internal ID15540775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23099356..23143633hg38UCSC Ensembl
Outerchr22:23441543..23485820hg19UCSC Ensembl
Outerchr22:21771543..21815820hg18UCSC Ensembl
Outerchr22:21766097..21810374hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg3844278
hg1944278
hg1844278
hg1744278
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3573
Supporting Variants
SamplesNA18555
Known GenesGNAZ, RTDR1
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)nssv2363
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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