A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055995



Internal ID19145214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:8222471..8271137hg38UCSC Ensembl
Innerchr18:8222469..8271135hg19UCSC Ensembl
Innerchr18:8212469..8261135hg18UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg3848667
hg1948667
hg1848667
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3564095
Samples
Known GenesPTPRM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055995
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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