A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540509



Internal ID15509038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:83188068..83228655hg38UCSC Ensembl
Innerchr7:82817384..82857971hg19UCSC Ensembl
Innerchr7:82655320..82695907hg18UCSC Ensembl
Innerchr7:82462035..82502622hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3840588
hg1940588
hg1840588
hg1740588
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464618
Supporting Variants
SamplesHGDP00933
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)nssv540509
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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