A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1751292



Internal ID17826967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:727053..794948hg38UCSC Ensembl
Innerchr1:662433..730328hg19UCSC Ensembl
Innerchr1:652296..720191hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3867896
hg1967896
hg1867896
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945732
Supporting Variants
SamplesHGDP00998
Known GenesLOC100133331, LOC100288069
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)nssv1751292
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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