A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973056



Internal ID18261585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:42086289..42087797hg38UCSC Ensembl
Innerchr12:42480091..42481599hg19UCSC Ensembl
Innerchr12:40766358..40767866hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381509
hg191509
hg181509
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1925582, nssv1925580, nssv1925574, nssv1925581, nssv1925579, nssv1925583, nssv1925577, nssv1925575, nssv1925578, nssv1925576
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesGXYLT1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973056
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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