A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011002



Internal ID18753535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16596505..16721972hg38UCSC Ensembl
Innerchr1:16923000..17048467hg19UCSC Ensembl
Innerchr1:16795587..16921054hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38125468
hg19125468
hg18125468
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv61n100
Supporting Variantsnssv3466452, nssv3476871, nssv3479194, nssv3465627, nssv3476099, nssv3479715, nssv3477046
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)nsv1011002
Frequency
Sample Size29084
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


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