A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582658



Internal ID16023381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110072078..110177146hg38UCSC Ensembl
Innerchr2:110829655..110934723hg19UCSC Ensembl
Innerchr2:110186944..110292012hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38105069
hg19105069
hg18105069
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv916035, nssv1150467
SamplesNINDS_238
Known GenesMALL, MIR4436B1, MIR4436B2, NPHP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582658
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer