A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2093817



Internal ID17453553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41079523..41106292hg38UCSC Ensembl
Innerchr17:39235775..39262544hg19UCSC Ensembl
Innerchr17:36489301..36516070hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3826770
hg1926770
hg1826770
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960485
Supporting Variants
SamplesHGDP00778
Known GenesKRTAP4-7, KRTAP4-8, KRTAP4-9
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2093817
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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