A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057712



Internal ID18800243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:11151554..11232027hg38UCSC Ensembl
Innerchr19:11262230..11342703hg19UCSC Ensembl
Innerchr19:11123230..11203703hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3880474
hg1980474
hg1880474
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3427n100
Supporting Variantsnssv3564693
Samples
Known GenesDOCK6, KANK2, SPC24
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057712
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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