A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv539405



Internal ID15503401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121458637..121570001hg38UCSC Ensembl
Innerchr1:121200490..121311799hg19UCSC Ensembl
Innerchr1:120902013..121013322hg18UCSC Ensembl
Innerchr1:120812532..120923841hg17UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38111365
hg19111310
hg18111310
hg17111310
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv463383
Supporting Variants
Samples1780862227_A
Known GenesEMBP1
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)nssv539405
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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