A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700497



Internal ID15090463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49786602..49792888hg38UCSC Ensembl
Innerchr19:50289859..50296145hg19UCSC Ensembl
Innerchr19:54981671..54987957hg18UCSC Ensembl
Innerchr19:54981671..54987957hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg386287
hg196287
hg186287
hg176287
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524546
Supporting Variants
Samples
Known GenesAP2A1, MIR6799
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700497
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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