A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542758



Internal ID15511958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:124528994..124544514hg38UCSC Ensembl
Innerchr10:126217563..126233083hg19UCSC Ensembl
Innerchr10:126207553..126223073hg18UCSC Ensembl
Innerchr10:126207553..126223073hg17UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3815521
hg1915521
hg1815521
hg1715521
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467470
Supporting Variants
SamplesNINDS_174
Known GenesLHPP
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)nssv542758
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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