A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv948n27



Internal ID20133206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:114193988..114693895hg38UCSC Ensembl
chr9:116956268..117456175hg19UCSC Ensembl
chr9:115996089..116495996hg18UCSC Ensembl
chr9:114035822..114535729hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38499908
hg19499908
hg18499908
hg17499908
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466534, nsv466535
SamplesNINDS_133, NINDS_192
Known GenesAKNA, ATP6V1G1, C9orf91, COL27A1, DFNB31, LOC100505478, MIR455, ORM1, ORM2
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)dgv948n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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