A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962252



Internal ID18597496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:7750888..7757032hg38UCSC Ensembl
Innerchr17:7654206..7660350hg19UCSC Ensembl
Innerchr17:7594931..7601075hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg386145
hg196145
hg186145
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2073987, nssv2073990, nssv2073986, nssv2073995, nssv2073988, nssv2073991, nssv2073989, nssv2073992, nssv2073994, nssv2073993
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDNAH2, RPL29P2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962252
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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