A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465238



Internal ID15525303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:154276796..154382550hg38UCSC Ensembl
Innerchr7:153973881..154079635hg19UCSC Ensembl
Innerchr7:153604814..153710568hg18UCSC Ensembl
Innerchr7:153411529..153517283hg17UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg38105755
hg19105755
hg18105755
hg17105755
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541075
SamplesHGDP01021
Known GenesDPP6
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)nsv465238
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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