A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607980



Internal ID16395389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:101325082..101484174hg38UCSC Ensembl
Innerchr7:100968363..101127455hg19UCSC Ensembl
Innerchr7:100755083..100914175hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38159093
hg19159093
hg18159093
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11535n54
Supporting Variantsnssv1091897, nssv1156554, nssv1091894, nssv1091893, nssv1156555, nssv1156556, nssv1091896, nssv1156553, nssv1091892, nssv1091898, nssv1091891, nssv1091895
SamplesHGDP01065, NINDS_195, 1780854477_A, NINDS_88
Known GenesCOL26A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607980
Frequency
Sample Size17421
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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