A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457910



Internal ID15171289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:75585518..75604810hg38UCSC Ensembl
Innerchr17:73581599..73600891hg19UCSC Ensembl
Innerchr17:71093194..71112486hg18UCSC Ensembl
Innerchr17:71093194..71112486hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3819293
hg1919293
hg1819293
hg1719293
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv373n27
Supporting Variantsnssv535004
SamplesHGDP00984
Known GenesMYO15B
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)nsv457910
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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