A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4527



Internal ID15549245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:138520500..138566702hg38UCSC Ensembl
Outerchr4:139441654..139487856hg19UCSC Ensembl
Outerchr4:139661104..139707306hg18UCSC Ensembl
Outerchr4:139799259..139845461hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3846203
hg1946203
hg1846203
hg1746203
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4783, nssv3287, nssv417, nssv2483
SamplesNA12878, NA18555, NA19240, NA19129
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)nsv4527
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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