A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999216



Internal ID19158752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:96248147..96299759hg38UCSC Ensembl
Innerchr1:96713703..96765315hg19UCSC Ensembl
Innerchr1:96486291..96537903hg18UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3851613
hg1951613
hg1851613
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3481435, nssv3478218
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999216
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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