A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997544



Internal ID18810394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:25362237..25915432hg38UCSC Ensembl
Innerchr4:25363859..25917054hg19UCSC Ensembl
Innerchr4:24972957..25526152hg18UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38553196
hg19553196
hg18553196
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3620597
Samples
Known GenesANAPC4, SEL1L3, SLC34A2, SMIM20, ZCCHC4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997544
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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