A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997446



Internal ID18810296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43560418..43616241hg38UCSC Ensembl
Innerchr1:44026089..44081912hg19UCSC Ensembl
Innerchr1:43798676..43854499hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3855824
hg1955824
hg1855824
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv158n100
Supporting Variantsnssv3463709
Samples
Known GenesPTPRF
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997446
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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