A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998903



Internal ID19158440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119564979..119597039hg38UCSC Ensembl
Innerchr1:120107602..120139662hg19UCSC Ensembl
Innerchr1:119909125..119941185hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3832061
hg1932061
hg1832061
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv303n100
Supporting Variantsnssv3702062, nssv3482786, nssv3501033
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)nsv998903
Frequency
Sample Size11257
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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