A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064930



Internal ID18807461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:2380093..2592252hg38UCSC Ensembl
Innerchr19:2380091..2592250hg19UCSC Ensembl
Innerchr19:2331091..2543250hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38212160
hg19212160
hg18212160
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3564603
Samples
Known GenesGADD45B, GNG7, LMNB2, MIR7108, TIMM13, TMPRSS9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064930
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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