A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469389



Internal ID15182768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52298689..52388357hg38UCSC Ensembl
Innerchr12:52692473..52782141hg19UCSC Ensembl
Innerchr12:50978740..51068408hg18UCSC Ensembl
Innerchr12:50978740..51068408hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3889669
hg1989669
hg1889669
hg1789669
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv200n27
Supporting Variantsnssv544268
SamplesNINDS_116
Known GenesKRT83, KRT84, KRT85, KRT86
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)nsv469389
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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