A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4252



Internal ID15548943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:17048495..17081066hg38UCSC Ensembl
Outerchr4:17050118..17082689hg19UCSC Ensembl
Outerchr4:16659216..16691787hg18UCSC Ensembl
Outerchr4:16726387..16758958hg17UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg387455
hg197455
hg187455
hg177455
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2454
SamplesNA18555
Known Genes
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)nsv4252
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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