A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224



Internal ID15547812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:236676381..236710861hg38UCSC Ensembl
Outerchr2:237585024..237619504hg19UCSC Ensembl
Outerchr2:237249763..237284243hg18UCSC Ensembl
Outerchr2:237367024..237401504hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg385541
hg195541
hg185541
hg175541
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3050
SamplesNA18555
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)nsv3224
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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