A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2702



Internal ID15547265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:41545371..41593762hg38UCSC Ensembl
Outerchr2:41772511..41820902hg19UCSC Ensembl
Outerchr2:41626015..41674406hg18UCSC Ensembl
Outerchr2:41684162..41732553hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3848392
hg1948392
hg1848392
hg1748392
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6834
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)nsv2702
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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