A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3601



Internal ID15548227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:33098065..33132064hg38UCSC Ensembl
Outerchr22:33494051..33528050hg19UCSC Ensembl
Outerchr22:31824051..31858050hg18UCSC Ensembl
Outerchr22:31818605..31852604hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg386030
hg196030
hg186030
hg176030
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3083
SamplesNA18555
Known Genes
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)nsv3601
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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