A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4049



Internal ID15548719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:147695524..147709804hg38UCSC Ensembl
Outerchr3:147413311..147427591hg19UCSC Ensembl
Outerchr3:148896001..148910281hg18UCSC Ensembl
Outerchr3:148896009..148910289hg17UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg3814281
hg1914281
hg1814281
hg1714281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7877
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)nsv4049
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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