A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061174



Internal ID18803705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:29668772..29760417hg38UCSC Ensembl
Innerchr19:30159679..30251324hg19UCSC Ensembl
Innerchr19:34851519..34943164hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3891646
hg1991646
hg1891646
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3724352
Samples
Known GenesC19orf12, PLEKHF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061174
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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