A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4534



Internal ID15549253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:144385498..144414064hg38UCSC Ensembl
Outerchr4:145306650..145335216hg19UCSC Ensembl
Outerchr4:145526100..145554666hg18UCSC Ensembl
Outerchr4:145664255..145692821hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3828567
hg1928567
hg1828567
hg1728567
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3291, nssv2484
SamplesNA12878, NA18555
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)nsv4534
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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