A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541945



Internal ID15165517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:68838527..69089911hg38UCSC Ensembl
Innerchr9:71453443..71704827hg19UCSC Ensembl
Innerchr9:70643263..70894647hg18UCSC Ensembl
Innerchr9:68682997..68934381hg17UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38251385
hg19251385
hg18251385
hg17251385
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466393
Supporting Variants
SamplesNINDS_214
Known GenesFXN, PIP5K1B, PRKACG
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)nssv541945
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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