A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2287



Internal ID15200164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:108798077..108840621hg38UCSC Ensembl
Outerchr1:109340699..109383243hg19UCSC Ensembl
Outerchr1:109142222..109184766hg18UCSC Ensembl
Outerchr1:109052741..109095285hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3842545
hg1942545
hg1842545
hg1742545
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2274
SamplesNA18555
Known GenesAKNAD1, STXBP3
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)nsv2287
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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