A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv652174



Internal ID15042140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43057570..43187166hg38UCSC Ensembl
Innerchr19:43561722..43691318hg19UCSC Ensembl
Innerchr19:48253562..48383158hg18UCSC Ensembl
Innerchr19:48253562..48383158hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38129597
hg19129597
hg18129597
hg17129597
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516973
Supporting Variants
Samples
Known GenesPSG2, PSG5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv652174
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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