A curated catalogue of human genomic structural variation

Variant Details

Variant: dgv8n27

Internal ID20132266
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12800601..12854043hg38UCSC Ensembl
chr1:12860749..12913896hg19UCSC Ensembl
chr1:12783336..12836483hg18UCSC Ensembl
chr1:12795015..12848162hg17UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv460084, nsv460062, nsv460239, nsv468727, nsv456551, nsv460050, nsv460017, nsv460206, nsv468616, nsv460139, nsv460173, nsv458329, nsv457662, nsv458551, nsv455885, nsv460284, nsv459662, nsv460028, nsv458662, nsv460195, nsv460150, nsv458884, nsv458440, nsv460217, nsv456885, nsv460261, nsv460073, nsv460128, nsv458107, nsv460250, nsv457218, nsv457996, nsv459551, nsv459218, nsv460328, nsv460295, nsv460117, nsv459107, nsv460306, nsv455774, nsv458996, nsv459440, nsv456218, nsv467727, nsv456107, nsv460095, nsv469393, nsv460161, nsv460184, nsv455996, nsv468838, nsv460339, nsv460006, nsv469171, nsv456440, nsv457885, nsv460317, nsv456774, nsv456329, nsv456996, nsv458773, nsv456662, nsv459329, nsv460228, nsv460039, nsv457773, nsv457551, nsv457329, nsv468505, nsv467616, nsv457440
SamplesHGDP01375, NINDS_198, HGDP00106, NINDS_134, HGDP00423, HGDP00751, HGDP01321, HGDP01372, HGDP00945, HGDP00791, 1780862250_A, NINDS_253, HGDP00279, NINDS_70, HGDP01363, HGDP00780, HGDP01361, HGDP00251, HGDP00732, 1780854357_A, NINDS_83, NINDS_182, HGDP00169, 1782681236_A, HGDP00351, NINDS_27, HGDP01003, 1780854216_A, 1780862574_A, 1780862263_A, 1798860277_A, HGDP01360, HGDP00781, HGDP00950, HGDP01296, 1780854341_A, 1787431167_A, HGDP01369, 1780854384_A, HGDP01352, NINDS_117, NINDS_109, HGDP01010, HGDP00267, HGDP00964, 1780862346_A, NINDS_219, HGDP01368, HGDP01191, HGDP01400, 1780862015_A, HGDP00285, 1782681287_A, HGDP00869, HGDP01338, NINDS_258, 1780862390_A, HGDP01306, HGDP00896, HGDP00364, HGDP00813, 1780854095_A, HGDP01330, NINDS_90, NINDS_266, HGDP00694, NINDS_240, HGDP00856, HGDP00748, 1780862229_A, NINDS_50
Known GenesHNRNPCL1, LOC649330, PRAMEF11
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Pubmed ID19166990
Accession Number(s)dgv8n27
Sample Size1557
Observed Gain0
Observed Loss71
Observed Complex0

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