A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058457



Internal ID18800988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:38277492..38844429hg38UCSC Ensembl
Innerchr20:36905894..37473072hg19UCSC Ensembl
Innerchr20:36339308..36906486hg18UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38566938
hg19567179
hg18567179
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3584773
Samples
Known GenesACTR5, ADIG, ARHGAP40, BPI, LBP, LOC149684, PPP1R16B, RALGAPB, SLC32A1, SNHG11, SNHG17, SNORA39, SNORA60, SNORA71A, SNORA71B, SNORA71C, SNORA71D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058457
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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