A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010269



Internal ID18752800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16544771..16703738hg38UCSC Ensembl
Innerchr1:16871266..17030233hg19UCSC Ensembl
Innerchr1:16743853..16902820hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38158968
hg19158968
hg18158968
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv49n100
Supporting Variantsnssv3470623
Samples
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, 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)nsv1010269
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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