A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv373n27



Internal ID18991383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75585518..75604810hg38UCSC Ensembl
chr17:73581599..73600891hg19UCSC Ensembl
chr17:71093194..71112486hg18UCSC Ensembl
chr17:71093194..71112486hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3819293
hg1919293
hg1819293
hg1719293
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv457911, nsv457910
SamplesHGDP00984, HGDP01081
Known GenesMYO15B
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)dgv373n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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