A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004276



Internal ID18746807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16609449..16710590hg38UCSC Ensembl
Innerchr1:16935944..17037085hg19UCSC Ensembl
Innerchr1:16808531..16909672hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38101142
hg19101142
hg18101142
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv66n100
Supporting Variantsnssv3468226
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)nsv1004276
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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