A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1757666



Internal ID17414869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:27967310..27968423hg38UCSC Ensembl
Innerchr1:28293821..28294934hg19UCSC Ensembl
Innerchr1:28166408..28167521hg18UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg381114
hg191114
hg181114
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945852
Supporting Variants
SamplesHGDP00542
Known GenesXKR8
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)nssv1757666
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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