A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534777



Internal ID15512125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:823892..875010hg38UCSC Ensembl
Innerchr17:727132..778250hg19UCSC Ensembl
Innerchr17:673882..725000hg18UCSC Ensembl
Innerchr17:673882..725000hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3851119
hg1951119
hg1851119
hg1751119
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457633
Supporting Variants
SamplesNINDS_203
Known GenesNXN
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)nssv534777
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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