A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542082



Internal ID15165978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:126496558..126519369hg38UCSC Ensembl
Innerchr9:129258837..129281648hg19UCSC Ensembl
Innerchr9:128298658..128321469hg18UCSC Ensembl
Innerchr9:126338391..126361202hg17UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3822812
hg1922812
hg1822812
hg1722812
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466563
Supporting Variants
SamplesNINDS_49
Known GenesMVB12B
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)nssv542082
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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