A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704374



Internal ID15094340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:3228181..3292266hg38UCSC Ensembl
Innerchr1:3144745..3208830hg19UCSC Ensembl
Innerchr1:3134605..3198690hg18UCSC Ensembl
Innerchr1:3167902..3231987hg17UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3864086
hg1964086
hg1864086
hg1764086
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527875
Supporting Variants
Samples
Known GenesPRDM16
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704374
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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