A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3152



Internal ID15201047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:213282926..213332692hg38UCSC Ensembl
Outerchr2:214147650..214197416hg19UCSC Ensembl
Outerchr2:213855895..213905661hg18UCSC Ensembl
Outerchr2:213973156..214022922hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg388584
hg198584
hg188584
hg178584
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3047, nssv6899, nssv10267
SamplesNA12156, NA18956, NA18555
Known GenesLOC100130451, SPAG16
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)nsv3152
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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