A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4325



Internal ID15549023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:47140326..47185009hg38UCSC Ensembl
Outerchr4:47142343..47187026hg19UCSC Ensembl
Outerchr4:46837100..46881783hg18UCSC Ensembl
Outerchr4:46983271..47027954hg17UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3844684
hg1944684
hg1844684
hg1744684
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7950
SamplesNA12156
Known GenesGABRB1
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)nsv4325
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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