A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4215



Internal ID15548902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:6608509..6652794hg38UCSC Ensembl
Outerchr4:6610236..6654521hg19UCSC Ensembl
Outerchr4:6661137..6705422hg18UCSC Ensembl
Outerchr4:6728308..6772593hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3844286
hg1944286
hg1844286
hg1744286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2447
SamplesNA18555
Known GenesMAN2B2, MRFAP1
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)nsv4215
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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