A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428370



Internal ID18278134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:52907206..53149322hg38UCSC Ensembl
Innerchr19:53410459..53652575hg19UCSC Ensembl
Innerchr19:58102271..58344387hg18UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38242117
hg19242117
hg18242117
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453760, nssv453761
SamplesNA18498, NA19096
Known GenesERVV-1, ERVV-2, ZNF160, ZNF321P, ZNF347, ZNF415, ZNF702P, ZNF816, ZNF816-ZNF321P
MethodBAC aCGH
AnalysisCopy number variable segments were automatically detected using the CNVfinder algorithm (Fiegler et al. 2006).
PlatformSanger H. sapiens Whole Genome Tile Path 28.7k v3
Comments
ReferencePerry_et_al_2008b
Pubmed ID18775914
Accession Number(s)nsv428370
Frequency
Sample Size62
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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