A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462166



Internal ID15522231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:51981695..52079679hg38UCSC Ensembl
Innerchr5:51277529..51375513hg19UCSC Ensembl
Innerchr5:51313286..51411270hg18UCSC Ensembl
Innerchr5:51313286..51411270hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3897985
hg1997985
hg1897985
hg1797985
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv703n27
Supporting Variantsnssv538401
Samples1780854449_A
Known Genes
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)nsv462166
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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