A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv539525



Internal ID15502017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:147719707..147837308hg38UCSC Ensembl
Innerchr1:147191841..147309443hg19UCSC Ensembl
Innerchr1:145658465..145776067hg18UCSC Ensembl
Innerchr1:144416657..144534259hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38117602
hg19117603
hg18117603
hg17117603
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv463506
Supporting Variants
Samples1780854090_A
Known GenesGJA5
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)nssv539525
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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