A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453719



Internal ID18274934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:47354499..47522248hg38UCSC Ensembl
Innerchr19:47857756..48025505hg19UCSC Ensembl
Innerchr19:52549596..52717317hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38167750
hg19167750
hg18167722
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428366
Supporting Variants
SamplesNA19113
Known GenesDHX34, KPTN, MEIS3, NAPA, NAPA-AS1, SLC8A2, ZNF541
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)nssv453719
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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