A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463517



Internal ID15176896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:147719707..147903855hg38UCSC Ensembl
Innerchr1:147191841..147375981hg19UCSC Ensembl
Innerchr1:145658465..145842605hg18UCSC Ensembl
Innerchr1:144416657..144600797hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38184149
hg19184141
hg18184141
hg17184141
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539536
Samples1780862040_A
Known GenesGJA5, GJA8
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)nsv463517
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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