A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542324



Internal ID15157083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:35600599..35673959hg38UCSC Ensembl
Innerchr10:35889527..35962887hg19UCSC Ensembl
Innerchr10:35929533..36002893hg18UCSC Ensembl
Innerchr10:35929533..36002893hg17UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg3873361
hg1973361
hg1873361
hg1773361
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466871
Supporting Variants
Samples1780862415_A
Known GenesFZD8, GJD4, MIR4683
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)nssv542324
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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