A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001113



Internal ID18743644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16686234..16898718hg38UCSC Ensembl
Innerchr1:17012729..17225213hg19UCSC Ensembl
Innerchr1:16885316..17097800hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38212485
hg19212485
hg18212485
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv78n100
Supporting Variantsnssv3465382
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)nsv1001113
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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