A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515996



Internal ID15096603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110072078..110224953hg38UCSC Ensembl
Innerchr2:110829655..110982530hg19UCSC Ensembl
Innerchr2:110186944..110339819hg18UCSC Ensembl
Innerchr2:110187030..110339905hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38152876
hg19152876
hg18152876
hg17152876
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv664504, nssv682555, nssv688659, nssv673564, nssv698586, nssv690777, nssv676989, nssv666615, nssv688084, nssv689579, nssv682264, nssv685248, nssv674877, nssv653095, nssv684422, nssv652386, nssv683838, nssv652365, nssv663600, nssv657774, nssv657202
Samples
Known GenesLINC00116, MALL, MIR4436B1, MIR4436B2, NPHP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515996
Frequency
Sample Size2026
Observed Gain11
Observed Loss10
Observed Complex0
Frequencyn/a


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