A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv454410



Internal ID18274161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16530732..16712261hg38UCSC Ensembl
Innerchr1:16857227..17038756hg19UCSC Ensembl
Innerchr1:16729814..16911343hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38181530
hg19181530
hg18181530
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428421
Supporting Variants
SamplesHGDP01088
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1P2, NBPF1
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)nssv454410
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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