A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3147



Internal ID15201041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:210416755..210462120hg38UCSC Ensembl
Outerchr2:211281479..211326844hg19UCSC Ensembl
Outerchr2:210989724..211035089hg18UCSC Ensembl
Outerchr2:211106985..211152350hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3845366
hg1945366
hg1845366
hg1745366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6897
SamplesNA12156
Known GenesLANCL1
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)nsv3147
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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