A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv451347



Internal ID18274169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144148386..144344825hg38UCSC Ensembl
Innerchr7:143845479..144041918hg19UCSC Ensembl
Innerchr7:143476412..143672851hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38196440
hg19196440
hg18196440
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428188
Supporting Variants
SamplesHGDP01088
Known GenesARHGEF34P, ARHGEF35, CTAGE4, CTAGE8, OR2A1, OR2A20P, OR2A42, OR2A7, OR2A9P, RNU6-57P
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)nssv451347
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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