A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694919



Internal ID15084885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:3310624..3312351hg38UCSC Ensembl
Innerchr1:3227188..3228915hg19UCSC Ensembl
Innerchr1:3217048..3218775hg18UCSC Ensembl
Innerchr1:3250345..3252072hg17UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg381728
hg191728
hg181728
hg171728
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522146
Supporting Variants
Samples
Known GenesPRDM16
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694919
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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