A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3478704



Internal ID19068237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:56318650..56349067hg38UCSC Ensembl
Innerchr1:56784322..56814739hg19UCSC Ensembl
Innerchr1:56556910..56587327hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3830418
hg1930418
hg1830418
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1015037
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3478704
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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