A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4347



Internal ID8516029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:56395238..56414429hg38UCSC Ensembl
Outerchr4:57261404..57280595hg19UCSC Ensembl
Outerchr4:56956161..56975352hg18UCSC Ensembl
Outerchr4:57102332..57121523hg17UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3819192
hg1919192
hg1819192
hg1719192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7958
SamplesNA12156
Known GenesPPAT
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)nsv4347
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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