A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000225



Internal ID19089442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119564979..119596669hg38UCSC Ensembl
Innerchr1:120107602..120139292hg19UCSC Ensembl
Innerchr1:119909125..119940815hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3831691
hg1931691
hg1831691
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv302n100
Supporting Variantsnssv3483064
Samples
Known GenesHSD3BP4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000225
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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