A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542692



Internal ID15165104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:74490799..74614146hg38UCSC Ensembl
Innerchr10:76250557..76373904hg19UCSC Ensembl
Innerchr10:75920563..76043910hg18UCSC Ensembl
Innerchr10:75920563..76043910hg17UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg38123348
hg19123348
hg18123348
hg17123348
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467379
Supporting Variants
SamplesNINDS_147
Known GenesADK
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)nssv542692
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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