A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700312



Internal ID15090278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:36323945..36382165hg38UCSC Ensembl
Innerchr1:36789546..36847766hg19UCSC Ensembl
Innerchr1:36562133..36620353hg18UCSC Ensembl
Innerchr1:36458639..36516859hg17UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3858221
hg1958221
hg1858221
hg1758221
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524394
Supporting Variants
Samples
Known GenesEVA1B, STK40
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700312
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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