A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580328



Internal ID16021051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54790359..54815284hg38UCSC Ensembl
Innerchr19:55301811..55326739hg19UCSC Ensembl
Innerchr19:59993623..60018551hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3824926
hg1924929
hg1824929
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150371, nssv1150366, nssv1150365, nssv1150368, nssv1150372, nssv1150369, nssv1150370, nssv1150367
SamplesNINDS_39, NINDS_246, NINDS_84, NINDS_158, NINDS_197, NINDS_224, NINDS_218, NINDS_196
Known GenesKIR2DL4, LOC100287534
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580328
Frequency
Sample Size17421
Observed Gain3
Observed Loss5
Observed Complex0
Frequencyn/a


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