A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517523



Internal ID15444816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108873603..108926086hg38UCSC Ensembl
Innerchr1:109416225..109468708hg19UCSC Ensembl
Innerchr1:109217748..109270231hg18UCSC Ensembl
Innerchr1:109128267..109180750hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3852484
hg1952484
hg1852484
hg1752484
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv15n21
Supporting Variantsnssv664194, nssv698037, nssv658571, nssv652271, nssv693324
Samples
Known GenesGPSM2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517523
Frequency
Sample Size2026
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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