A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542864



Internal ID15512542
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 Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467644
Supporting Variants
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)nssv542864
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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