A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428165



Internal ID11591597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:43855828..44172960hg38UCSC Ensembl
Innerchr7:43895427..44212559hg19UCSC Ensembl
Innerchr7:43861952..44179084hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38317133
hg19317133
hg18317133
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
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, GCK, LINC00957, MIR4649, MIR6837, MIR6838, MRPS24, MYL7, PGAM2, POLD2, POLM, POLR2J4, RASA4CP, SPDYE1, UBE2D4, URGCP, URGCP-MRPS24
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)nsv428165
Frequency
Sample Size62
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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