A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467644



Internal ID15527709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:1618794..1641306hg38UCSC Ensembl
Innerchr11:1640024..1662536hg19UCSC Ensembl
Innerchr11:1596600..1619112hg18UCSC Ensembl
Innerchr11:1596600..1619112hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3822513
hg1922513
hg1822513
hg1722513
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542864
SamplesNINDS_3
Known GenesKRTAP5-4, KRTAP5-5, MOB2
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)nsv467644
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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