A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542102



Internal ID15509506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:130156951..130206355hg38UCSC Ensembl
Innerchr9:132919230..132968634hg19UCSC Ensembl
Innerchr9:131959051..132008455hg18UCSC Ensembl
Innerchr9:129998784..130048188hg17UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3849405
hg1949405
hg1849405
hg1749405
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466592
Supporting Variants
SamplesHGDP01023
Known GenesNCS1
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)nssv542102
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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