A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981591



Internal ID18270102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:140459608..140461178hg38UCSC Ensembl
Innerchr7:140159408..140160978hg19UCSC Ensembl
Innerchr7:139805877..139807447hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381571
hg191571
hg181571
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2481617, nssv2481624, nssv2481625, nssv2481623, nssv2481626, nssv2481620, nssv2481619, nssv2481621, nssv2481618, nssv2481622
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesMKRN1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981591
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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