A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704607



Internal ID15094573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:233620319..233629781hg38UCSC Ensembl
Innerchr1:233756065..233765527hg19UCSC Ensembl
Innerchr1:231822688..231832150hg18UCSC Ensembl
Innerchr1:230062800..230072262hg17UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg389463
hg199463
hg189463
hg179463
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528071
Supporting Variants
Samples
Known GenesKCNK1, MIR4427
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704607
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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