A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540053



Internal ID15502080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:136476073..136676481hg38UCSC Ensembl
Innerchr6:136797211..136997619hg19UCSC Ensembl
Innerchr6:136838904..137039312hg18UCSC Ensembl
Innerchr6:136838904..137039312hg17UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38200409
hg19200409
hg18200409
hg17200409
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464064
Supporting Variants
Samples1780854123_A
Known GenesMAP3K5, MAP7
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)nssv540053
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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