A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056584



Internal ID19145803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:81144088..81233236hg38UCSC Ensembl
Innerchr16:81177693..81266841hg19UCSC Ensembl
Innerchr16:79735194..79824342hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3889149
hg1989149
hg1889149
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3047n100
Supporting Variantsnssv3559820, nssv3559821, nssv3559822, nssv3559819
Samples
Known GenesPKD1L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056584
Frequency
Sample Size11257
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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