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 Variantsnsv545485, nsv545470, nsv545480, nsv545469
SamplesNINDS_266, HGDP00262, NINDS_219, HGDP01352, 1780862294_A, HGDP00694, NINDS_182, HGDP00856, HGDP01399, HGDP00021, NINDS_70, HGDP00560, HGDP00945, NINDS_253, HGDP00072, HGDP01372, NINDS_208, NINDS_109, HGDP00707, HGDP01103, NINDS_90, NINDS_83, 1780854260_A, NINDS_240, HGDP01306, NINDS_50, HGDP00869, HGDP00950, 1782681216_A, 1780854261_A, 1780854216_A, NINDS_198, 1798860565_A, HGDP01400, HGDP00364, NINDS_117, HGDP00751, 1780862085_A, HGDP00572, NINDS_134, 1780846321_A, NINDS_27, HGDP00714, NINDS_258, 1780854362_A, 1780854128_A, HGDP01317, HGDP01251
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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