A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3700657



Internal ID18998938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:47698950..47855190hg38UCSC Ensembl
Innerchr1:48164622..48320862hg19UCSC Ensembl
Innerchr1:47937209..48093449hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38156241
hg19156241
hg18156241
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1001126
Supporting Variants
Samples
Known GenesTRABD2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3700657
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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