A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057554



Internal ID19146773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53435723..53503054hg38UCSC Ensembl
Innerchr19:53938976..54006308hg19UCSC Ensembl
Innerchr19:58630788..58698120hg18UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3867332
hg1967333
hg1867333
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3649n100
Supporting Variantsnssv3573287, nssv3573288
Samples
Known GenesTPM3P9, ZNF761, ZNF813
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057554
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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