A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv454487



Internal ID18273423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16681097..16799163hg38UCSC Ensembl
Innerchr1:17007592..17125658hg19UCSC Ensembl
Innerchr1:16880179..16998245hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38118067
hg19118067
hg18118067
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428421
Supporting Variants
SamplesHGDP00467
Known GenesESPNP, LOC729574, MIR3675, MST1L
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)nssv454487
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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