A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003595



Internal ID19092813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119567876..119597388hg38UCSC Ensembl
Innerchr1:120110499..120140011hg19UCSC Ensembl
Innerchr1:119912022..119941534hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3829513
hg1929513
hg1829513
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv302n100
Supporting Variantsnssv3486376
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)nsv1003595
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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