A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11030



Internal ID15539678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:224599726..224629239hg38UCSC Ensembl
Outerchr2:225464443..225493956hg19UCSC Ensembl
Outerchr2:225172687..225202200hg18UCSC Ensembl
Outerchr2:225289948..225319461hg17UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg3810377
hg1910377
hg1810377
hg1710377
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3184
Supporting Variants
SamplesNA15510
Known Genes
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)nssv11030
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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