A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055268



Internal ID19144487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51628371..51655602hg38UCSC Ensembl
Innerchr19:52131624..52158855hg19UCSC Ensembl
Innerchr19:56823436..56850667hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3827232
hg1927232
hg1827232
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3623n100
Supporting Variantsnssv3575004, nssv3575003
Samples
Known GenesSIGLEC14, SIGLEC5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055268
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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