A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv468n100



Internal ID22786555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178688746..178708496hg38UCSC Ensembl
chr1:178657881..178677631hg19UCSC Ensembl
chr1:176924504..176944254hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3819751
hg1919751
hg1819751
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv997920, nsv1001090, nsv1010215, nsv1012914, nsv1013830, nsv1010131, nsv1010585, nsv998394, nsv1003074, nsv1000546, nsv1009528, nsv1007983, nsv1015011, nsv1006908, nsv1003965, nsv1012167, nsv1001516, nsv1003228
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)dgv468n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer