A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540145



Internal ID15512551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167943158..168195571hg38UCSC Ensembl
Innerchr6:168343838..168596251hg19UCSC Ensembl
Innerchr6:168086687..168339100hg18UCSC Ensembl
Innerchr6:168162394..168414807hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38252414
hg19252414
hg18252414
hg17252414
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464196
Supporting Variants
SamplesNINDS_33
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4
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)nssv540145
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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