A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3573809



Internal ID18525404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:47695560..47768115hg38UCSC Ensembl
Innerchr19:48198817..48271372hg19UCSC Ensembl
Innerchr19:52890629..52963184hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3872556
hg1972556
hg1872556
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1059189
Supporting Variants
Samples
Known GenesEHD2, GLTSCR1, GLTSCR2, SNORD23
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3573809
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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