A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4522



Internal ID15549240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:134729524..134763523hg38UCSC Ensembl
Outerchr4:135650679..135684678hg19UCSC Ensembl
Outerchr4:135870129..135904128hg18UCSC Ensembl
Outerchr4:136008284..136042283hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg385732
hg195732
hg185732
hg175732
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3285
SamplesNA12878
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)nsv4522
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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