A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591163



Internal ID16378572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100631901..100714748hg38UCSC Ensembl
Innerchr3:100350745..100433592hg19UCSC Ensembl
Innerchr3:101833435..101916282hg18UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg3882848
hg1982848
hg1882848
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8479n54
Supporting Variantsnssv970721, nssv970715, nssv970699, nssv970713, nssv970705, nssv970710, nssv970714, nssv970709, nssv1152008, nssv1152014, nssv970703, nssv1152005, nssv970712, nssv1152013, nssv1152015, nssv1152012, nssv970719, nssv1152007, nssv970702, nssv970706, nssv970718, nssv970701, nssv1152016, nssv970716, nssv970717, nssv970720, nssv970707, nssv970723, nssv970722, nssv970711, nssv970700, nssv970704, nssv1152006, nssv1152011, nssv1152009, nssv970724, nssv970708, nssv1152010
Samples1780862074_A, NINDS_82, HGDP00631, NINDS_70, 1780862196_A, HGDP01063, HGDP00099, HGDP01066, 1780862559_A, HGDP01359, NINDS_69, HGDP00669
Known GenesGPR128, TFG
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591163
Frequency
Sample Size17421
Observed Gain38
Observed Loss0
Observed Complex0
Frequencyn/a


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