A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4200



Internal ID15548886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2252081..2286377hg38UCSC Ensembl
Outerchr4:2253808..2288104hg19UCSC Ensembl
Outerchr4:2223606..2257902hg18UCSC Ensembl
Outerchr4:2221039..2255335hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg385446
hg195446
hg185446
hg175446
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3229
SamplesNA12878
Known GenesMXD4, ZFYVE28
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)nsv4200
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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