A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612419



Internal ID16399828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136675987..136838205hg38UCSC Ensembl
Innerchr8:137688230..137850448hg19UCSC Ensembl
Innerchr8:137757412..137919630hg18UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38162219
hg19162219
hg18162219
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12343n54
Supporting Variantsnssv1122368, nssv1122390, nssv1122396, nssv1122379, nssv1122393, nssv1122375, nssv1122382, nssv1122392, nssv1122385, nssv1122391, nssv1122378, nssv1122395, nssv1122387, nssv1122394, nssv1122373, nssv1122371, nssv1122377, nssv1122370, nssv1122376, nssv1122386, nssv1122380, nssv1122388, nssv1122372, nssv1122369, nssv1122383, nssv1122384, nssv1122381, nssv1122374, nssv1122389, nssv1122367
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612419
Frequency
Sample Size17421
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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