A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3465719



Internal ID18714675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16703085..16919676hg38UCSC Ensembl
Innerchr1:17029580..17246171hg19UCSC Ensembl
Innerchr1:16902167..17118758hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38216592
hg19216592
hg18216592
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv997940
Supporting Variants
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)nssv3465719
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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