A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582670



Internal ID16023393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110099666..110200752hg38UCSC Ensembl
Innerchr2:110857243..110958329hg19UCSC Ensembl
Innerchr2:110214532..110315618hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38101087
hg19101087
hg18101087
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv916048, nssv916049
Samples
Known GenesMALL, NPHP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582670
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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