A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv454265



Internal ID18273334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16437838..17016273hg38UCSC Ensembl
Innerchr1:16764333..17342768hg19UCSC Ensembl
Innerchr1:16636920..17215355hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38578436
hg19578436
hg18578436
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428421
Supporting Variants
SamplesHGDP00463
Known GenesATP13A2, CROCC, CROCCP2, CROCCP3, ESPNP, LOC729574, MFAP2, MIR3675, MST1L, MST1P2, NBPF1, NECAP2
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)nssv454265
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer