A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704812



Internal ID15094778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109239568..109272630hg38UCSC Ensembl
Innerchr1:109782190..109815252hg19UCSC Ensembl
Innerchr1:109583713..109616775hg18UCSC Ensembl
Innerchr1:109494232..109527294hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3833063
hg1933063
hg1833063
hg1733063
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517354
Supporting Variants
Samples
Known GenesCELSR2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704812
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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