A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009953



Internal ID19099172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195552380..195720039hg38UCSC Ensembl
Innerchr3:195279198..195446910hg19UCSC Ensembl
Innerchr3:196760487..196932581hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38167660
hg19167713
hg18172095
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5016n100
Supporting Variantsnssv3611394, nssv3611393, nssv3738470, nssv3611395, nssv3611392
Samples
Known GenesAPOD, MIR570, SDHAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009953
Frequency
Sample Size11257
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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