A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946397



Internal ID18593247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:153132741..153140690hg38UCSC Ensembl
Innerchr1:153105217..153113166hg19UCSC Ensembl
Innerchr1:151371841..151379790hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg387950
hg197950
hg187950
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1798651, nssv1798645, nssv1798649, nssv1798648, nssv1798647, nssv1798643, nssv1798642, nssv1798646, nssv1798650, nssv1798644
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSPRR2C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946397
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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