A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540128



Internal ID15503794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167935400..168193276hg38UCSC Ensembl
Innerchr6:168336080..168593956hg19UCSC Ensembl
Innerchr6:168078929..168336805hg18UCSC Ensembl
Innerchr6:168154636..168412512hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38257877
hg19257877
hg18257877
hg17257877
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464162
Supporting Variants
Samples1780862419_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)nssv540128
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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