A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4244



Internal ID15548934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:14945642..14977464hg38UCSC Ensembl
Outerchr4:14947266..14979088hg19UCSC Ensembl
Outerchr4:14556364..14588186hg18UCSC Ensembl
Outerchr4:14623535..14655357hg17UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg387452
hg197452
hg187452
hg177452
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4731, nssv373
SamplesNA19240, NA19129
Known GenesCPEB2-AS1
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)nsv4244
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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