A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542734



Internal ID15159366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:100929460..101007360hg38UCSC Ensembl
Innerchr10:102689217..102767117hg19UCSC Ensembl
Innerchr10:102679207..102757107hg18UCSC Ensembl
Innerchr10:102679207..102757107hg17UCSC Ensembl
Cytoband10q24.31
Allele length
AssemblyAllele length
hg3877901
hg1977901
hg1877901
hg1777901
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467443
Supporting Variants
SamplesHGDP00338
Known GenesC10orf2, FAM178A, LZTS2, MIR608, MRPL43, SEMA4G
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)nssv542734
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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