A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998882



Internal ID18811732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16544771..16686278hg38UCSC Ensembl
Innerchr1:16871266..17012773hg19UCSC Ensembl
Innerchr1:16743853..16885360hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38141508
hg19141508
hg18141508
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv50n100
Supporting Variantsnssv3466984, nssv3465718, nssv3469972, nssv3465840, nssv3482683, nssv3477125, nssv3472103, nssv3473490, nssv3469581, nssv3479252, nssv3470147, nssv3470339, nssv3471640, nssv3477883, nssv3476311, nssv3475330, nssv3473205, nssv3471155, nssv3480053, nssv3698838
Samples
Known GenesCROCCP2, 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)nsv998882
Frequency
Sample Size29084
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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