A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462916



Internal ID15522981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:38779994..38814625hg38UCSC Ensembl
Innerchr6:38747770..38782401hg19UCSC Ensembl
Innerchr6:38855748..38890379hg18UCSC Ensembl
Innerchr6:38855748..38890379hg17UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3834632
hg1934632
hg1834632
hg1734632
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538974
Samples1780854279_A
Known GenesDNAH8
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)nsv462916
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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