A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468607



Internal ID15181986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67605006..67656421hg38UCSC Ensembl
Innerchr11:67372477..67423892hg19UCSC Ensembl
Innerchr11:67129053..67180468hg18UCSC Ensembl
Innerchr11:67129053..67180468hg17UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3851416
hg1951416
hg1851416
hg1751416
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv154n27
Supporting Variantsnssv543710
Samples1780862003_A
Known GenesACY3, DOC2GP, NDUFV1, NUDT8, TBX10
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)nsv468607
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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