A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945917



Internal ID18592767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:45067978..45080883hg38UCSC Ensembl
Innerchr1:45533650..45546555hg19UCSC Ensembl
Innerchr1:45306237..45319142hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3812906
hg1912906
hg1812906
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1761019, nssv1761022, nssv1761024, nssv1761021, nssv1761018, nssv1761023, nssv1761015, nssv1761017, nssv1761016, nssv1761020
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZSWIM5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945917
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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