A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817673



Internal ID6108958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:27260469..27386799hg19UCSC Ensembl
Innerchr2:27113973..27240303hg18UCSC Ensembl
Innerchr2:27172120..27298450hg17UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1416302
SamplesNA18855
Known GenesABHD1, AGBL5, C2orf53, CGREF1, EMILIN1, KHK, OST4, PREB, TCF23, TMEM214
Method
AnalysisIdentical to variant call (no regions submitted)
PlatformIllumina HumanHap550 Bead Chip
Comments
ReferenceWang_et_al_2007
Pubmed ID17921354
Accession Number(s)nsv817673
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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