A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv681393



Internal ID15071359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42698618..43035037hg38UCSC Ensembl
Innerchr19:43202770..43539189hg19UCSC Ensembl
Innerchr19:47894610..48231029hg18UCSC Ensembl
Innerchr19:47894610..48231029hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38336420
hg19336420
hg18336420
hg17336420
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516973
Supporting Variants
Samples
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG3, PSG6, PSG7, PSG8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv681393
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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