A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701485



Internal ID15438137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:194298271..194527460hg38UCSC Ensembl
Innerchr1:194267401..194496590hg19UCSC Ensembl
Innerchr1:192534024..192763213hg18UCSC Ensembl
Innerchr1:190999058..191228247hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38229190
hg19229190
hg18229190
hg17229190
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525365
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701485
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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