A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001344



Internal ID18743875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16583102..16788127hg38UCSC Ensembl
Innerchr1:16909597..17114622hg19UCSC Ensembl
Innerchr1:16782184..16987209hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38205026
hg19205026
hg18205026
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv51n100
Supporting Variantsnssv3465669
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)nsv1001344
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