A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055776



Internal ID19144995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42784104..43038667hg38UCSC Ensembl
Innerchr19:43288256..43542819hg19UCSC Ensembl
Innerchr19:47980096..48234659hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38254564
hg19254564
hg18254564
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3558n100
Supporting Variantsnssv3568954, nssv3568957, nssv3568956, nssv3568955, nssv3722894
Samples
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG6, PSG7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055776
Frequency
Sample Size11257
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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