A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2857



Internal ID15547420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:102858183..102903212hg38UCSC Ensembl
Outerchr2:103474642..103519670hg19UCSC Ensembl
Outerchr2:102841074..102886102hg18UCSC Ensembl
Outerchr2:102933160..102978188hg17UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3845030
hg1945029
hg1845029
hg1745029
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7532
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)nsv2857
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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