A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv828n27



Internal ID22767557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99157649..99190966hg38UCSC Ensembl
chr7:98755272..98788589hg19UCSC Ensembl
chr7:98593208..98626525hg18UCSC Ensembl
chr7:98399923..98433240hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3833318
hg1933318
hg1833318
hg1733318
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv464646, nsv464645
SamplesHGDP01412, HGDP01418
Known GenesKPNA7
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)dgv828n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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