A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2850



Internal ID15547413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:101155917..101201506hg38UCSC Ensembl
Outerchr2:101772379..101817968hg19UCSC Ensembl
Outerchr2:101138811..101184400hg18UCSC Ensembl
Outerchr2:101230897..101276486hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3845590
hg1945590
hg1845590
hg1745590
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6862
SamplesNA12156
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)nsv2850
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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