A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542300



Internal ID15507885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:27323431..27424596hg38UCSC Ensembl
Innerchr10:27612360..27713525hg19UCSC Ensembl
Innerchr10:27652366..27753531hg18UCSC Ensembl
Innerchr10:27652366..27753531hg17UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38101166
hg19101166
hg18101166
hg17101166
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466841
Supporting Variants
SamplesHGDP00733
Known GenesPTCHD3
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)nssv542300
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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