A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028730



Internal ID19117948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181236035..181292789hg38UCSC Ensembl
Innerchr5:180663035..180719790hg19UCSC Ensembl
Innerchr5:180595641..180652396hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3856755
hg1956756
hg1856756
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3650352, nssv3746761, nssv3746759, nssv3650353, nssv3746760
Samples
Known GenesGNB2L1, SNORD95, SNORD96A, TRIM52, TRIM52-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028730
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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