A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021714



Internal ID18764248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143367285..143378038hg38UCSC Ensembl
Innerchr4:144288438..144299191hg19UCSC Ensembl
Innerchr4:144507888..144518641hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3810754
hg1910754
hg1810754
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5411n100
Supporting Variantsnssv3641197
Samples
Known GenesGAB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021714
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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