A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700302



Internal ID15436954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:45022919..45025832hg38UCSC Ensembl
Innerchr1:45488591..45491504hg19UCSC Ensembl
Innerchr1:45261178..45264091hg18UCSC Ensembl
Innerchr1:45157684..45160597hg17UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg382914
hg192914
hg182914
hg172914
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524385
Supporting Variants
Samples
Known GenesZSWIM5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700302
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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