A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1785554



Internal ID17764089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143873992..143903735hg38UCSC Ensembl
Innerchr1:120906911..120936695hg19UCSC Ensembl
Innerchr1:120708434..120738398hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3829744
hg1929785
hg1829965
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv946199
Supporting Variants
SamplesHGDP00542
Known GenesFCGR1B, HIST2H2BA
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1785554
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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