A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428240



Internal ID18278004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:122503559..122695299hg38UCSC Ensembl
Innerchr10:124263075..124454815hg19UCSC Ensembl
Innerchr10:124253065..124444805hg18UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg38191741
hg19191741
hg18191741
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451976, nssv451974, nssv451972, nssv451970, nssv451973, nssv451971, nssv451969
SamplesHGDP01093, NA18498, NA19189, NA19181, HGDP00471, NA19096, HGDP01086
Known GenesDMBT1, HTRA1
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)nsv428240
Frequency
Sample Size62
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


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