A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594101



Internal ID16381510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:44966586..45002970hg38UCSC Ensembl
Innerchr4:44968603..45004987hg19UCSC Ensembl
Innerchr4:44663360..44699744hg18UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3836385
hg1936385
hg1836385
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9030n54
Supporting Variantsnssv996879, nssv996885, nssv996881, nssv996896, nssv996883, nssv996888, nssv996890, nssv996891, nssv996886, nssv996889, nssv996887, nssv996900, nssv996899, nssv996895, nssv996882, nssv996884, nssv996880, nssv996897, nssv996892, nssv996898, nssv996894, nssv996893
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594101
Frequency
Sample Size17421
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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