A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963048



Internal ID18251604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40082542..40083305hg38UCSC Ensembl
Innerchr19:40588449..40589212hg19UCSC Ensembl
Innerchr19:45280289..45281052hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38764
hg19764
hg18764
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2146805, nssv2146806, nssv2146799, nssv2146801, nssv2146800, nssv2146797, nssv2146803, nssv2146804, nssv2146798, nssv2146802
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesZNF780A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963048
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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