A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043919



Internal ID19133138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20235273..22308242hg38UCSC Ensembl
Innerchr15:20440526..22681064hg19UCSC Ensembl
Innerchr15:18700540..20232428hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382072970
hg192240539
hg181531889
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2193n100
Supporting Variantsnssv3534678, nssv3539529, nssv3534684, nssv3534680, nssv3713606, nssv3713610, nssv3534676, nssv3534681, nssv3539530, nssv3534674, nssv3713605, nssv3539528, nssv3713608, nssv3713609, nssv3534682, nssv3534679, nssv3534677, nssv3534675, nssv3534683, nssv3713607, nssv3713604
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, MIR4509-1, MIR4509-2, MIR4509-3, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043919
Frequency
Sample Size11257
Observed Gain16
Observed Loss5
Observed Complex0
Frequencyn/a


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