A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999004



Internal ID18811854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16518425..16660344hg38UCSC Ensembl
Innerchr1:16844920..16986839hg19UCSC Ensembl
Innerchr1:16717507..16859426hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38141920
hg19141920
hg18141920
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv44n100
Supporting Variantsnssv3474838, nssv3463422, nssv3463139, nssv3478060, nssv3472231, nssv3698794, nssv3474806, nssv3480889, nssv3469492, nssv3465682, nssv3472075, nssv3475088, nssv3479415, nssv3477218
Samples
Known GenesCROCCP2, 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)nsv999004
Frequency
Sample Size29084
Observed Gain13
Observed Loss1
Observed Complex0
Frequencyn/a


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