A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534066



Internal ID15164990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:32633875..33060788hg38UCSC Ensembl
Innerchr15:32926076..33352989hg19UCSC Ensembl
Innerchr15:30713368..31140281hg18UCSC Ensembl
Innerchr15:30713368..31140281hg17UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38426914
hg19426914
hg18426914
hg17426914
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456785
Supporting Variants
SamplesNINDS_129
Known GenesARHGAP11A, FMN1, GREM1, LOC100131315, SCG5
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)nssv534066
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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