A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545617



Internal ID15986340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:15721510..15770742hg38UCSC Ensembl
Innerchr1:16048005..16097237hg19UCSC Ensembl
Innerchr1:15920592..15969824hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3849233
hg1949233
hg1849233
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173776
Samples1780862275_A
Known GenesFBLIM1, PLEKHM2, SLC25A34, TMEM82
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545617
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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