A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv689961



Internal ID15079927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:226216756..226320944hg38UCSC Ensembl
Innerchr1:226404457..226508645hg19UCSC Ensembl
Innerchr1:224471080..224575268hg18UCSC Ensembl
Innerchr1:222711192..222815380hg17UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38104189
hg19104189
hg18104189
hg17104189
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517107
Supporting Variants
Samples
Known GenesLIN9, MIXL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv689961
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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