A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4285



Internal ID15548979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:30814020..30837162hg38UCSC Ensembl
Outerchr4:30815642..30838784hg19UCSC Ensembl
Outerchr4:30424740..30447882hg18UCSC Ensembl
Outerchr4:30491911..30515053hg17UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3823143
hg1923143
hg1823143
hg1723143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10401
SamplesNA18956
Known GenesPCDH7
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)nsv4285
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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