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Variant Placements (including Supporting Variants) for nstd93
Study IDVariant IDVariant Region typeVariant Call typeSampleset IDMethodAnalysis IDValidationVariant samplesSubject phenotypeClinical InterpretationAssemblyAccessionChrOuter-StartStartInner-StartInner-EndEndOuter-EndPlacement TypeRemap Score
nstd93nssv3397476copy number lossOligo aCGHProbe signal intensityYesAR888-03BARDET-BIEDL SYNDROME 1; BBS1PathogenicGRCh37 (hg19)NC_000011.9116627484066292574Submitted genomic
nstd93nssv3397476copy number lossOligo aCGHProbe signal intensityYesAR888-03BARDET-BIEDL SYNDROME 1; BBS1PathogenicGRCh37 (hg19)NC_000011.9116627484066292574Submitted genomic
nstd93nssv3397476copy number lossOligo aCGHProbe signal intensityYesAR888-03BARDET-BIEDL SYNDROME 1; BBS1PathogenicGRCh38.p12NC_000011.10116650736966525103Remapped1
nstd93nsv996317copy number variationYesGRCh37 (hg19)NC_000011.9116627484066292574Submitted genomic
nstd93nsv996317copy number variationYesGRCh37 (hg19)NC_000011.9116627484066292574Submitted genomic
nstd93nsv996317copy number variationYesGRCh38.p12NC_000011.10116650736966525103Remapped1
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