A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7750



Internal ID15536114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:41122379..41155766hg38UCSC Ensembl
Outerchr22:41518383..41551770hg19UCSC Ensembl
Outerchr22:39848329..39881716hg18UCSC Ensembl
Outerchr22:39842883..39876270hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg386048
hg196048
hg186048
hg176048
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3636
Supporting Variants
SamplesNA12156
Known GenesEP300
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)nssv7750
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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