A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv451203



Internal ID18274380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102352620..102735503hg38UCSC Ensembl
Innerchr7:101993063..102375950hg19UCSC Ensembl
Innerchr7:101779783..102163186hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38382884
hg19382888
hg18383404
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428182
Supporting Variants
SamplesHGDP01094
Known GenesALKBH4, LOC100289561, LOC100630923, LRWD1, MIR4467, MIR5090, ORAI2, POLR2J, POLR2J2, POLR2J3, PRKRIP1, RASA4, RASA4B, SPDYE2, SPDYE2B, SPDYE6, UPK3BL
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)nssv451203
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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