A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv684645



Internal ID15074611
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 gain
Copy Number
Allele State
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)nssv684645
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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