A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428365



Internal ID5948065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:45861285..45972347hg19UCSC Ensembl
Innerchr19:50553125..50664187hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain+Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv453718, nssv453717, nssv453716
SamplesHGDP00474, NA19257, HGDP00462
Known GenesCD3EAP, ERCC1, ERCC2, FOSB, PPP1R13L
Method
AnalysisCNVRs were generated by merging all individual human CNV calls.
PlatformSanger H. sapiens Whole Genome Tile Path 28.7k v3
Comments
ReferencePerry et al 2008b
Pubmed ID18775914
Accession Number(s)nsv428365
Frequency
Sample Size62
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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