A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv417n27



Internal ID22767146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42918847..43191688hg38UCSC Ensembl
chr19:43422999..43695840hg19UCSC Ensembl
chr19:48114839..48387680hg18UCSC Ensembl
chr19:48114839..48387680hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38272842
hg19272842
hg18272842
hg17272842
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv458652, nsv458679, nsv458664, nsv458672, nsv458665, nsv458673, nsv458668, nsv458670, nsv458682, nsv458681, nsv458671, nsv458659, nsv458677, nsv458680, nsv458678, nsv458666, nsv458669, nsv458661
SamplesHGDP01284, HGDP00678, HGDP01254, HGDP00698, NINDS_195, HGDP01365, HGDP01063, NINDS_205, 1780862346_A, HGDP01259, HGDP00423, HGDP00769, 1788485381_A, HGDP00740, HGDP01337, HGDP01366, 1780854483_A, NINDS_156
Known GenesPSG11, PSG2, PSG5, PSG7
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)dgv417n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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