A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469356



Internal ID15529421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37848227..38793606hg38UCSC Ensembl
Innerchr12:38242029..39187408hg19UCSC Ensembl
Innerchr12:36528296..37473675hg18UCSC Ensembl
Innerchr12:36528296..37473675hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38945380
hg19945380
hg18945380
hg17945380
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544247
SamplesNINDS_6
Known GenesALG10B, CPNE8
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)nsv469356
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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