A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2370



Internal ID15540768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:32925451..32958256hg38UCSC Ensembl
Outerchr22:33321436..33354241hg19UCSC Ensembl
Outerchr22:31651436..31684241hg18UCSC Ensembl
Outerchr22:31645990..31678795hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg387184
hg197184
hg187184
hg177184
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3600
Supporting Variants
SamplesNA18555
Known GenesSYN3
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)nssv2370
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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