A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv123n54



Internal ID20133547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12800601..12854043hg38UCSC Ensembl
chr1:12860749..12913896hg19UCSC Ensembl
chr1:12783336..12836483hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3853443
hg1953148
hg1853148
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545480, nsv545485, nsv545469, nsv545470
SamplesHGDP01251, 1780854362_A, NINDS_198, 1782681216_A, NINDS_134, HGDP00751, HGDP00262, HGDP01372, HGDP00945, HGDP00021, 1780854260_A, NINDS_253, NINDS_70, 1780862085_A, 1780846321_A, 1780862294_A, NINDS_83, NINDS_182, 1780854128_A, 1798860565_A, NINDS_27, 1780854216_A, HGDP00950, 1780854261_A, HGDP01399, HGDP01352, NINDS_208, NINDS_117, NINDS_109, NINDS_219, HGDP01400, HGDP01317, HGDP01103, HGDP00714, HGDP00869, NINDS_258, HGDP01306, HGDP00364, NINDS_90, HGDP00707, NINDS_266, HGDP00694, NINDS_240, HGDP00560, HGDP00572, HGDP00856, HGDP00072, NINDS_50
Known GenesHNRNPCL1, LOC649330, PRAMEF11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv123n54
Frequency
Sample Size17421
Observed Gain37
Observed Loss63
Observed Complex0
Frequencyn/a


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