A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029049



Internal ID19118268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:142239454..142275884hg38UCSC Ensembl
Innerchr5:141619019..141655449hg19UCSC Ensembl
Innerchr5:141599203..141635633hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3836431
hg1936431
hg1836431
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3648149, nssv3648148
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029049
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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