A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3629



Internal ID15201571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:39504067..39534583hg38UCSC Ensembl
Outerchr22:39900072..39930588hg19UCSC Ensembl
Outerchr22:38230018..38260534hg18UCSC Ensembl
Outerchr22:38224572..38255088hg17UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg388920
hg198920
hg188920
hg178920
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6985
SamplesNA12156
Known GenesATF4, MIEF1, RPS19BP1
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)nsv3629
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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