A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064047



Internal ID19153266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51628371..51654150hg38UCSC Ensembl
Innerchr19:52131624..52157403hg19UCSC Ensembl
Innerchr19:56823436..56849215hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3825780
hg1925780
hg1825780
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3623n100
Supporting Variantsnssv3575001
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)nsv1064047
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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