A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2111734



Internal ID17420451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76679837..76681031hg38UCSC Ensembl
Innerchr17:74675919..74677113hg19UCSC Ensembl
Innerchr17:72187514..72188708hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381195
hg191195
hg181195
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv960533
Supporting Variants
SamplesHGDP00542
Known GenesMXRA7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2111734
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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