A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998576



Internal ID18811426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16660344..16899023hg38UCSC Ensembl
Innerchr1:16986839..17225518hg19UCSC Ensembl
Innerchr1:16859426..17098105hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38238680
hg19238680
hg18238680
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv78n100
Supporting Variantsnssv3698908
Samples
Known GenesESPNP, LOC729574, MIR3675, MST1L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998576
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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