A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv690n27



Internal ID22767419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9898850..9924385hg38UCSC Ensembl
chr5:9898962..9924497hg19UCSC Ensembl
chr5:9951962..9977497hg18UCSC Ensembl
chr5:9951962..9977497hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3825536
hg1925536
hg1825536
hg1725536
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv461947, nsv461964, nsv461948, nsv461957, nsv461955, nsv461961, nsv461952, nsv461956, nsv461960, nsv461954, nsv461958, nsv461949, nsv461959, nsv461953, nsv461966, nsv461963, nsv461965
Samples1798860210_A, HGDP00092, HGDP00513, HGDP00607, HGDP00041, HGDP00522, NINDS_29, HGDP00626, HGDP00558, HGDP01265, HGDP00886, HGDP01244, HGDP00632, 1780854464_A, HGDP00643, HGDP00206, HGDP00564
Known GenesLOC285692
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)dgv690n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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