A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066030



Internal ID18808561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:30538643..30610634hg38UCSC Ensembl
Innerchr17:28865661..28937652hg19UCSC Ensembl
Innerchr17:25889787..25961778hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3871992
hg1971992
hg1871992
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3138n100
Supporting Variantsnssv3561047
Samples
Known GenesLRRC37BP1, TBC1D29
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066030
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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