A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv57n27



Internal ID22766786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196853900..196951018hg38UCSC Ensembl
chr1:196823030..196920148hg19UCSC Ensembl
chr1:195089653..195186771hg18UCSC Ensembl
chr1:193554687..193651805hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3897119
hg1997119
hg1897119
hg1797119
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv467761, nsv467672, nsv467783, nsv467572, nsv467872, nsv467617, nsv467550, nsv467561, nsv467728, nsv467794, nsv467805, nsv467716, nsv467816, nsv467628, nsv467539, nsv467528, nsv467705, nsv467883, nsv467650, nsv467827, nsv467594, nsv467739, nsv467694, nsv467583, nsv467683, nsv467750, nsv467395, nsv467417, nsv467506, nsv467639
SamplesNINDS_167, HGDP00479, HGDP01081, HGDP00894, 1780854391_A, HGDP00624, HGDP00755, HGDP00455, HGDP01033, HGDP00218, HGDP01311, 1798860292_A, 1780854535_A, HGDP00756, NINDS_186, HGDP00952, 1780854449_A, HGDP00741, HGDP01367, NINDS_173, HGDP01094, 1780862085_A, NINDS_92, 1782681099_A, 1780854017_A, 1782681176_A, NINDS_245, HGDP00961, 1780862379_A, NINDS_259
Known GenesCFHR2, CFHR4
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
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)dgv57n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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