A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516780



Internal ID15097387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53054454..53102049hg38UCSC Ensembl
Innerchr1:53520126..53567721hg19UCSC Ensembl
Innerchr1:53292714..53340309hg18UCSC Ensembl
Innerchr1:53232147..53279742hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3847596
hg1947596
hg1847596
hg1747596
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv660166, nssv672612, nssv670772, nssv700439, nssv701768, nssv692841, nssv687629, nssv660861, nssv675520, nssv686801, nssv703091
Samples
Known GenesPODN, SLC1A7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516780
Frequency
Sample Size2026
Observed Gain1
Observed Loss10
Observed Complex0
Frequencyn/a


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