A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457122



Internal ID15170501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:42656664..42770350hg38UCSC Ensembl
Innerchr15:42948862..43062548hg19UCSC Ensembl
Innerchr15:40736154..40849840hg18UCSC Ensembl
Innerchr15:40736154..40849840hg17UCSC Ensembl
Cytoband15q15.2
Allele length
AssemblyAllele length
hg38113687
hg19113687
hg18113687
hg17113687
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534382
Samples1780854065_A
Known GenesCDAN1, STARD9, TTBK2
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)nsv457122
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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