A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4306



Internal ID15549002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:38535396..38564314hg38UCSC Ensembl
Outerchr4:38537017..38565935hg19UCSC Ensembl
Outerchr4:38213412..38242330hg18UCSC Ensembl
Outerchr4:38359583..38388501hg17UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg387023
hg197023
hg187023
hg177023
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7075
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)nsv4306
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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