A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582660



Internal ID16023383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110072078..110224953hg38UCSC Ensembl
Innerchr2:110829655..110982530hg19UCSC Ensembl
Innerchr2:110186944..110339819hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38152876
hg19152876
hg18152876
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7001n54
Supporting Variantsnssv1150470, nssv1150468, nssv916037, nssv916038, nssv1150469
SamplesHGDP01336, 1782681092_A, HGDP00587
Known GenesLINC00116, MALL, MIR4436B1, MIR4436B2, NPHP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582660
Frequency
Sample Size17421
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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