A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542690



Internal ID15160757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:71863519..71905893hg38UCSC Ensembl
Innerchr10:73623277..73665651hg19UCSC Ensembl
Innerchr10:73293283..73335657hg18UCSC Ensembl
Innerchr10:73293283..73335657hg17UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3842375
hg1942375
hg1842375
hg1742375
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467376
Supporting Variants
SamplesHGDP00662
Known Genes
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)nssv542690
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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