A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525575



Internal ID15452868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:45479323..45912865hg38UCSC Ensembl
Innerchr5:45479425..45912967hg19UCSC Ensembl
Innerchr5:45515182..45948724hg18UCSC Ensembl
Innerchr5:45515182..45948724hg17UCSC Ensembl
Cytoband5p11
Allele length
AssemblyAllele length
hg38433543
hg19433543
hg18433543
hg17433543
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701714
Samples
Known GenesHCN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525575
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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