A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv684991



Internal ID15421643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:12058736..12112834hg38UCSC Ensembl
Innerchr10:12100735..12154833hg19UCSC Ensembl
Innerchr10:12140741..12194839hg18UCSC Ensembl
Innerchr10:12140741..12194839hg17UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3854099
hg1954099
hg1854099
hg1754099
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515591
Supporting Variants
Samples
Known GenesDHTKD1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv684991
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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