A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv451058



Internal ID18272957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72862179..73274886hg38UCSC Ensembl
Innerchr7:72332743..72688930hg19UCSC Ensembl
Innerchr7:71970679..72326866hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38412708
hg19356188
hg18356188
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428171
Supporting Variants
SamplesHGDP00449
Known GenesGTF2IP1, LOC100093631, LOC100101148, LOC541473, NCF1B, NSUN5P2, PMS2L2, PMS2P5, POM121, SPDYE7P, SPDYE8P, STAG3L1, STAG3L3, TRIM73, TRIM74
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)nssv451058
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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