A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547618



Internal ID16335027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119564979..119620164hg38UCSC Ensembl
Innerchr1:120107602..120162787hg19UCSC Ensembl
Innerchr1:119909125..119964310hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3855186
hg1955186
hg1855186
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv524n54
Supporting Variantsnssv1173123
SamplesHGDP00454
Known GenesHSD3BP4, LINC00622, ZNF697
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547618
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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