A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694157



Internal ID15430809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:203050522..203055639hg38UCSC Ensembl
Innerchr1:203019650..203024767hg19UCSC Ensembl
Innerchr1:201286273..201291390hg18UCSC Ensembl
Innerchr1:199751307..199756424hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg385118
hg195118
hg185118
hg175118
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522340
Supporting Variants
Samples
Known GenesPPFIA4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694157
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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