A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462949



Internal ID15176328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:57109104..57234175hg38UCSC Ensembl
Innerchr6:56973902..57098973hg19UCSC Ensembl
Innerchr6:57081861..57206932hg18UCSC Ensembl
Innerchr6:57081861..57206932hg17UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg38125072
hg19125072
hg18125072
hg17125072
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539000
Samples1780862206_A
Known GenesBAG2, RAB23, ZNF451
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)nsv462949
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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