A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006056



Internal ID18748587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16855930..16921891hg38UCSC Ensembl
Innerchr1:17182425..17248386hg19UCSC Ensembl
Innerchr1:17055012..17120973hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3865962
hg1965962
hg1865962
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv105n100
Supporting Variantsnssv3482628, nssv3481087, nssv3474098, nssv3464213
Samples
Known GenesMIR3675
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006056
Frequency
Sample Size29084
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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