A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4472



Internal ID15549185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:112760630..112779712hg38UCSC Ensembl
Outerchr4:113681786..113700868hg19UCSC Ensembl
Outerchr4:113901235..113920317hg18UCSC Ensembl
Outerchr4:114039390..114058472hg17UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg3819083
hg1919083
hg1819083
hg1719083
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7990
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)nsv4472
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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