A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006221



Internal ID18748752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16583102..16643671hg38UCSC Ensembl
Innerchr1:16909597..16970166hg19UCSC Ensembl
Innerchr1:16782184..16842753hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3860570
hg1960570
hg1860570
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv57n100
Supporting Variantsnssv3698871, nssv3471462
Samples
Known GenesCROCCP2, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006221
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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