A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2070



Internal ID15199947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:46281160..46548771hg38UCSC Ensembl
Outerchr17:44358526..44626137hg19UCSC Ensembl
Outerchr17:41714303..41981453hg18UCSC Ensembl
Outerchr17:41714303..41981453hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38267612
hg19267612
hg18267151
hg17267151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4272, nssv10976
SamplesNA15510, NA12878
Known GenesARL17A, ARL17B, LRRC37A, LRRC37A2, NSFP1
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)nsv2070
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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