A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428270



Internal ID5947817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7856819..8623987hg19UCSC Ensembl
Innerchr12:7748086..8515254hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv452247, nssv452240, nssv452248, nssv452249, nssv452243
SamplesHGDP00984, HGDP01093, HGDP01088, NA19113, HGDP00471
Known GenesC3AR1, CLEC4A, CLEC4C, CLEC6A, DPPA3, FAM66C, FAM86FP, FAM90A1, FOXJ2, LOC389634, NANOG, NANOGNB, NECAP1, POU5F1P3, SLC2A14, SLC2A3, ZNF705A
Method
AnalysisCNVRs were generated by merging all individual human CNV calls.
PlatformSanger H. sapiens Whole Genome Tile Path 28.7k v3
Comments
ReferencePerry et al 2008b
Pubmed ID18775914
Accession Number(s)nsv428270
Frequency
Sample Size62
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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