A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000949



Internal ID18743480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:61871..121670hg38UCSC Ensembl
Innerchr4:61763..121550hg19UCSC Ensembl
Innerchr4:51763..111550hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3859800
hg1959788
hg1859788
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5069n100
Supporting Variantsnssv3615280, nssv3615281, nssv3615282
Samples
Known GenesZNF595, ZNF718
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000949
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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