A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv916044



Internal ID15863314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110095298..110149329hg38UCSC Ensembl
Innerchr2:110852875..110906906hg19UCSC Ensembl
Innerchr2:110210164..110264195hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3854032
hg1954032
hg1854032
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582666
Supporting Variants
Samples
Known GenesMALL, NPHP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv916044
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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