A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005499



Internal ID18748030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16502007..16898718hg38UCSC Ensembl
Innerchr1:16828502..17225213hg19UCSC Ensembl
Innerchr1:16701089..17097800hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38396712
hg19396712
hg18396712
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv42n100
Supporting Variantsnssv3473695
Samples
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1L, MST1P2, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005499
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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