A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534412



Internal ID15503190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:55981248..56028037hg38UCSC Ensembl
Innerchr15:56273446..56320235hg19UCSC Ensembl
Innerchr15:54060738..54107527hg18UCSC Ensembl
Innerchr15:54060738..54107527hg17UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg3846790
hg1946790
hg1846790
hg1746790
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457160
Supporting Variants
Samples1780862101_A
Known GenesNEDD4
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)nssv534412
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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