A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542730



Internal ID15156287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:97355926..97407679hg38UCSC Ensembl
Innerchr10:99115683..99167436hg19UCSC Ensembl
Innerchr10:99105673..99157426hg18UCSC Ensembl
Innerchr10:99105673..99157426hg17UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg3851754
hg1951754
hg1851754
hg1751754
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467437
Supporting Variants
Samples1780862019_A
Known GenesRRP12
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)nssv542730
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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