A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428180



Internal ID18277944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:100153358..100363277hg38UCSC Ensembl
Innerchr7:99750981..99960900hg19UCSC Ensembl
Innerchr7:99588917..99798836hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38209920
hg19209920
hg18209920
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451170, nssv451168, nssv451169
SamplesNA19257, NA19147, HGDP00449
Known GenesC7orf43, GAL3ST4, GATS, GPC2, LAMTOR4, MIR4658, MIR6840, PILRB, PMS2P1, PVRIG, PVRIG2P, SPDYE3, STAG3, STAG3L5P, STAG3L5P-PVRIG2P-PILRB
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)nsv428180
Frequency
Sample Size62
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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