A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998751



Internal ID19158287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16559628..16660344hg38UCSC Ensembl
Innerchr1:16886123..16986839hg19UCSC Ensembl
Innerchr1:16758710..16859426hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38100717
hg19100717
hg18100717
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv48n100
Supporting Variantsnssv3481148, nssv3698853, nssv3471732, nssv3466862, nssv3698854, nssv3463738, nssv3698855, nssv3469973, nssv3479008, nssv3469979, nssv3471611, nssv3470499, nssv3698856, nssv3475514, nssv3464293, nssv3473348, nssv3478544, nssv3481437
Samples
Known GenesCROCCP2, 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)nsv998751
Frequency
Sample Size11257
Observed Gain13
Observed Loss5
Observed Complex0
Frequencyn/a


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