A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000172



Internal ID19089389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119564979..119597388hg38UCSC Ensembl
Innerchr1:120107602..120140011hg19UCSC Ensembl
Innerchr1:119909125..119941534hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3832410
hg1932410
hg1832410
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv302n100
Supporting Variantsnssv3488758, nssv3502709, nssv3491835, nssv3498757, nssv3490652, nssv3494842, nssv3494374, nssv3502181, nssv3483060, nssv3488404, nssv3500051, nssv3498493, nssv3495125
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)nsv1000172
Frequency
Sample Size11257
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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