A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593437



Internal ID16034160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2904558..3233253hg38UCSC Ensembl
Innerchr4:2906285..3234980hg19UCSC Ensembl
Innerchr4:2876083..3204778hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg38328696
hg19328696
hg18328696
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152574
Samples1780862404_A
Known GenesADD1, GRK4, HTT, HTT-AS, MFSD10, NOP14, NOP14-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593437
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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