A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006992



Internal ID19096210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:112955366..113017240hg38UCSC Ensembl
Innerchr4:113876522..113938396hg19UCSC Ensembl
Innerchr4:114095971..114157845hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg3861875
hg1961875
hg1861875
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3632706
Samples
Known GenesANK2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006992
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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