A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540143



Internal ID15501891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167943158..168191454hg38UCSC Ensembl
Innerchr6:168343838..168592134hg19UCSC Ensembl
Innerchr6:168086687..168334983hg18UCSC Ensembl
Innerchr6:168162394..168410690hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38248297
hg19248297
hg18248297
hg17248297
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464190
Supporting Variants
Samples1780846005_A
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)nssv540143
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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