A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv454454



Internal ID18273836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16530732..16799163hg38UCSC Ensembl
Innerchr1:16857227..17125658hg19UCSC Ensembl
Innerchr1:16729814..16998245hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38268432
hg19268432
hg18268432
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428421
Supporting Variants
SamplesHGDP00984
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1L, 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)nssv454454
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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