A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065995



Internal ID18808526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75339858..75592129hg38UCSC Ensembl
Innerchr16:75373756..75626027hg19UCSC Ensembl
Innerchr16:73931257..74183528hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38252272
hg19252272
hg18252272
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3559579
Samples
Known GenesCFDP1, CHST5, CHST6, GABARAPL2, TMEM170A, TMEM231
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065995
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer