A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542297



Internal ID15503981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:24432633..24483795hg38UCSC Ensembl
Innerchr10:24721562..24772724hg19UCSC Ensembl
Innerchr10:24761568..24812730hg18UCSC Ensembl
Innerchr10:24761568..24812730hg17UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg3851163
hg1951163
hg1851163
hg1751163
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466836
Supporting Variants
Samples1780862484_A
Known GenesKIAA1217
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)nssv542297
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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