A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428117



Internal ID18277881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69347454..71500057hg38UCSC Ensembl
Innerchr5:68643281..70795884hg19UCSC Ensembl
Innerchr5:68679037..70831640hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg382152604
hg192152604
hg182152604
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450438, nssv450448, nssv450460, nssv450452, nssv450435, nssv450449, nssv450443, nssv450437, nssv450436, nssv450428, nssv450439, nssv450429, nssv450458, nssv450427, nssv450441, nssv450434, nssv450447, nssv450457, nssv450446, nssv450444, nssv450455, nssv450456, nssv450459, nssv450461, nssv450432, nssv450451, nssv450430, nssv450450, nssv450445, nssv450440, nssv450433, nssv450454
SamplesHGDP00450, HGDP00474, HGDP00463, HGDP00984, NA19257, NA19147, HGDP00476, HGDP01093, HGDP01087, HGDP01094, NA19096, NA19181, HGDP01089, NA19189, HGDP00467, NA18498, HGDP00986, HGDP01086, NA19225, NA19113, HGDP00460, HGDP00473, HGDP00449, HGDP00472, HGDP00471
Known GenesAK6, BDP1, GTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, GUSBP9, LOC100272216, LOC441081, LOC647859, MARVELD2, NAIP, OCLN, PMCHL2, RAD17, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2, TAF9
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)nsv428117
Frequency
Sample Size62
Observed Gain20
Observed Loss9
Observed Complex0
Frequencyn/a


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