A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537135



Internal ID15166166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:15749411..15799712hg38UCSC Ensembl
Innerchr1:16075906..16126207hg19UCSC Ensembl
Innerchr1:15948493..15998794hg18UCSC Ensembl
Innerchr1:15821212..15871513hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3850302
hg1950302
hg1850302
hg1750302
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460594
Supporting Variants
SamplesNINDS_70
Known GenesFBLIM1
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)nssv537135
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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