A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998520



Internal ID18811370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16685683..16931994hg38UCSC Ensembl
Innerchr1:17012178..17258489hg19UCSC Ensembl
Innerchr1:16884765..17131076hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38246312
hg19246312
hg18246312
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv78n100
Supporting Variantsnssv3699934
Samples
Known GenesCROCC, ESPNP, 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)nsv998520
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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