A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007622



Internal ID18750153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16544771..16850538hg38UCSC Ensembl
Innerchr1:16871266..17177033hg19UCSC Ensembl
Innerchr1:16743853..17049620hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38305768
hg19305768
hg18305768
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv53n100
Supporting Variantsnssv3475840
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)nsv1007622
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