A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012090



Internal ID19101308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:48863255..48965565hg38UCSC Ensembl
Innerchr2:49090394..49192704hg19UCSC Ensembl
Innerchr2:48943898..49046208hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38102311
hg19102311
hg18102311
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3807n100
Supporting Variantsnssv3581644
Samples
Known GenesFSHR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012090
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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