A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428165



Internal ID5948448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:43895427..44212559hg19UCSC Ensembl
Innerchr7:43861952..44179084hg18UCSC Ensembl
Cytoband7p13
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 Variantsnssv450946, nssv450955, nssv450940, nssv450947, nssv450943, nssv450948, nssv450938, nssv450936, nssv450935, nssv450949, nssv450937, nssv450952, nssv450956, nssv450950, nssv450939, nssv450944, nssv450945, nssv450957, nssv450941, nssv450954, nssv450951
SamplesHGDP00450, HGDP00463, HGDP00984, NA19257, NA19108, NA19147, HGDP00476, HGDP01093, HGDP01087, HGDP01094, NA18916, NA19181, NA19189, HGDP00467, NA18498, HGDP00986, HGDP01088, HGDP01086, NA19225, HGDP00449, HGDP00472
Known GenesAEBP1, DBNL, FLJ35390, GCK, MIR4649, MRPS24, MYL7, PGAM2, POLD2, POLM, POLR2J4, RASA4P, SPDYE1, UBE2D4, URGCP, URGCP-MRPS24
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)nsv428165
Frequency
Sample Size62
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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