A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541409



Internal ID15503593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:171490368..171575912hg38UCSC Ensembl
Innerchr1:171459507..171545051hg19UCSC Ensembl
Innerchr1:169726131..169811675hg18UCSC Ensembl
Innerchr1:168191165..168276709hg17UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg3885545
hg1985545
hg1885545
hg1785545
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465639
Supporting Variants
Samples1780862355_A
Known GenesPRRC2C
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)nssv541409
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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