A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002984



Internal ID18745516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:108296400..108335472hg38UCSC Ensembl
Innerchr3:108015247..108054319hg19UCSC Ensembl
Innerchr3:109497937..109537009hg18UCSC Ensembl
Cytoband3q13.12
Allele length
AssemblyAllele length
hg3839073
hg1939073
hg1839073
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3604397
Samples
Known GenesHHLA2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002984
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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