A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442774



Internal ID15154807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54786431..54815154hg38UCSC Ensembl
Innerchr19:55297883..55326609hg19UCSC Ensembl
Innerchr19:59989695..60018421hg18UCSC Ensembl
Innerchr19:59989695..60018421hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3828724
hg1928727
hg1828727
hg1728727
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1653186, nssv1653180, nssv1653188, nssv1653194, nssv1653183, nssv1653198, nssv1653195, nssv1653190, nssv1653189, nssv1653179, nssv1653200, nssv1653185, nssv1653184, nssv1653187, nssv1653197, nssv1653193, nssv1653201, nssv1653204, nssv1653182, nssv1653196, nssv1653202, nssv1653203, nssv1653192, nssv1653199, nssv1653181, nssv1653191
SamplesNA19142, NA19137, NA19194, NA18914, NA18521, NA18573, NA18542, NA18949, NA19143, NA18912, NA18592, NA18856, NA18609, NA18537, NA18522, NA19238, NA19119, NA19139, NA19141, NA19193, NA19128, NA18857, NA19205, NA19130, NA19240, NA19204
Known GenesKIR2DL4, LOC100287534
MethodSNP array
AnalysisWe used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.
Platform[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Comments
ReferenceMcCarroll_et_al_2008
Pubmed ID18776908
Accession Number(s)nsv442774
Frequency
Sample Size270
Observed Gain3
Observed Loss23
Observed Complex0
Frequencyn/a


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