A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462528



Internal ID15522593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:94656962..94677287hg38UCSC Ensembl
Innerchr1:95122518..95142843hg19UCSC Ensembl
Innerchr1:94895106..94915431hg18UCSC Ensembl
Innerchr1:94834539..94854864hg17UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3820326
hg1920326
hg1820326
hg1720326
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538669
SamplesNINDS_196
Known GenesLINC01057
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)nsv462528
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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