A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1150030



Internal ID15533941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6901880..7112582hg38UCSC Ensembl
Innerchr19:6901891..7112593hg19UCSC Ensembl
Innerchr19:6852891..7063593hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38210703
hg19210703
hg18210703
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv578469
Supporting Variants
SamplesNINDS_236
Known GenesEMR1, EMR4P, FLJ25758, INSR, MBD3L2, MBD3L3, MBD3L4, MBD3L5, ZNF557
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1150030
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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