A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004359



Internal ID19093576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119566490..119597388hg38UCSC Ensembl
Innerchr1:120109113..120140011hg19UCSC Ensembl
Innerchr1:119910636..119941534hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3830899
hg1930899
hg1830899
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv302n100
Supporting Variantsnssv3492638, nssv3499334, nssv3486132, nssv3490177, nssv3490222
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)nsv1004359
Frequency
Sample Size11257
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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