A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3600



Internal ID15548226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:32925451..32972644hg38UCSC Ensembl
Outerchr22:33321436..33368629hg19UCSC Ensembl
Outerchr22:31651436..31698629hg18UCSC Ensembl
Outerchr22:31645990..31693183hg17UCSC 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 StatusM
Merged Variants
Supporting Variantsnssv5930, nssv2370
SamplesNA18555, NA19129
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)nsv3600
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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