A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3047



Internal ID15194242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:213282926..213313325hg38UCSC Ensembl
Outerchr2:214147650..214178049hg19UCSC Ensembl
Outerchr2:213855895..213886294hg18UCSC Ensembl
Outerchr2:213973156..214003555hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg385793
hg195793
hg185793
hg175793
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3152
Supporting Variants
SamplesNA18555
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)nssv3047
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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