A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462918



Internal ID15522983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:38907976..38933460hg38UCSC Ensembl
Innerchr6:38875752..38901236hg19UCSC Ensembl
Innerchr6:38983730..39009214hg18UCSC Ensembl
Innerchr6:38983730..39009214hg17UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3825485
hg1925485
hg1825485
hg1725485
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538976
Samples1780854231_A
Known GenesDNAH8, LOC100131047
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)nsv462918
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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