A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4383



Internal ID15549087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:71360723..71393484hg38UCSC Ensembl
Outerchr4:72226440..72259201hg19UCSC Ensembl
Outerchr4:72445304..72478065hg18UCSC Ensembl
Outerchr4:72591475..72624236hg17UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg386679
hg196679
hg186679
hg176679
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7095
SamplesNA12156
Known GenesSLC4A4
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)nsv4383
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer